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Gene: Wdr11 MGI:1920230

Gene Summary

Name:

WD repeat domain 11

Synonyms:

2900055P10Rik, Brwd2, Wdr11

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Wdr11^em1(IMPC)Mbp	HET	Early adult	8.43×10^-05
abnormal tail length	Wdr11^em1(IMPC)Mbp	HET	Early adult	8.73×10^-05
abnormal kidney morphology	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged seminal vesicle	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
anophthalmia	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
improved glucose tolerance	Wdr11^em1(IMPC)Mbp	HET	Late adult	3.93×10^-05
abnormal heart morphology	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
absent seminal vesicle	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
absent adrenal gland	Wdr11^em1(IMPC)Mbp	HOM	Late adult	0.00
absent seminal vesicle	Wdr11^em1(IMPC)Mbp	HOM	Late adult	0.00
hydrometra	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
increased red blood cell distribution width	Wdr11^em1(IMPC)Mbp	HOM	Early adult	1.08×10^-05
abnormal skin morphology	Wdr11^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged heart	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal heart morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal uterus morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spinal cord morphology	Wdr11^em1(IMPC)Mbp	HET	Early adult	0.00
small heart	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
male infertility	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Wdr11^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal eye morphology	Wdr11^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged seminal vesicle	Wdr11^em1(IMPC)Mbp	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

78 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

3 Images

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Histopathology

Images

6 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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Human diseases caused by Wdr11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Wdr11 (5 diseases)
Human diseases predicted to be associated with Wdr11 (2885 diseases)

The table below shows human diseases associated to Wdr11 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Pituitary Stalk Interruption Syndrome	Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Septo-optic dysplas...	ORPHA:95496
Kallmann Syndrome	Delayed puberty, Reduced bone mineral density, Erectile dysfunction, Hypoplasia of penis, Dyspare...	ORPHA:478
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:614858
Intellectual Developmental Disorder, Autosomal Recessive 78	Retrognathia, Cubitus valgus, Clinodactyly of the 5th finger, High palate, Microcephaly, Microret...	OMIM:620237

The table below shows human diseases predicted to be associated to Wdr11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Holoprosencephaly	Microphthalmia, Solitary median maxillary central incisor, Hypoplasia of penis, Anosmia, Tooth ag...	ORPHA:2162
Microcephaly 25, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Filum terminale lipoma, Tethered cord	OMIM:618351
Pseudotrisomy 13 Syndrome	Microphthalmia, Microcephaly, Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Polymicr...	OMIM:264480
Microform Holoprosencephaly	Solitary median maxillary central incisor, Hypoplasia of penis, Microcephaly, Intrauterine growth...	ORPHA:280200
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Bifid uvula, Umbilical hernia, Intrauterine growth retardation, Alveolar ridge over...	OMIM:612938
Trisomy 18	Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho...	ORPHA:3380
16P13.11 Microdeletion Syndrome	Microcephaly, Wide mouth, Ventriculomegaly, Cyclopia, Anteverted nares, Exaggerated cupid's bow, ...	ORPHA:261236
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc...	ORPHA:398079
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypoplasia of penis, Thyroid hypoplasia, Microcephaly, Intestinal malrotation, Hy...	ORPHA:2166
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele...	ORPHA:398069
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Everted lower lip vermilion, Aortic valve stenosis, Microcephaly, Ventriculo...	ORPHA:96147
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid di...	OMIM:200990
Ethanolaminosis	Cardiomegaly	OMIM:227150
Solitary Median Maxillary Central Incisor	Cyclopia, Decreased response to growth hormone stimulation test, Hypotelorism, Microphthalmia, An...	OMIM:147250
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Hypothalamic hamartoma, Oligodactyly, Shortening of all distal ph...	OMIM:146510
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormality of the hand, Hypotelorism, Short philtrum, Tooth malposition, High palate, Furrowed t...	ORPHA:1387
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Triploidy	Hypoplasia of penis, Decreased skull ossification, Intestinal malrotation, Wide mouth, Intrauteri...	ORPHA:3376
Tonne-Kalscheuer Syndrome	Microcephaly, Broad thumb, Abnormal heart morphology, Hypospadias, Short stature, Malar flattenin...	OMIM:300978
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Relative macrocephaly, Intestinal malrotation, Syndactyly, Short distal...	OMIM:300963
Ritscher-Schinzel Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Syndactyly, Intrauterine growth retardation, Decreased ...	OMIM:220210
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Sandal gap, Microcephaly, Ventriculomegaly, Short philtrum, Anteverted nares, Sho...	OMIM:612530
Recombinant Chromosome 8 Syndrome	Pulmonic stenosis, Ventriculomegaly, Anteverted nares, Abnormality of the dentition, Camptodactyl...	OMIM:179613
Kleefstra Syndrome 1	Tracheobronchomalacia, Everted lower lip vermilion, Microcephaly, Conotruncal defect, Hypospadias...	OMIM:610253
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Distal Deletion 10P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:1580
49,Xxxxy Syndrome	Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scrotum, Joint hypermobil...	ORPHA:96264
Microphthalmia, Syndromic 12	Retrognathia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, B...	OMIM:615524
Trisomy 1Q	Arachnodactyly, Small scrotum, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Cleft palate, Pat...	ORPHA:261344
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Long philtrum, Hypotelorism, Single transverse palmar crease, High palate, Bilateral ...	OMIM:613544
Mosaic Trisomy 9	Rocker bottom foot, Microphthalmia, Hypoplasia of penis, Microcephaly, Intestinal malrotation, Mu...	ORPHA:99776
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom...	OMIM:614480
15Q24 Microdeletion Syndrome	Wide nasal base, Proximal placement of thumb, Myelomeningocele, Microcephaly, Abnormal heart morp...	ORPHA:94065
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Clitoral hypertrophy, Subependymal cysts, Renal cortical microcysts, Hypospad...	OMIM:214100
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Trisomy 13	Bilateral single transverse palmar creases, Microphthalmia, Multiple renal cysts, Intrauterine gr...	ORPHA:3378
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Small scrotum, Ventriculomegaly, Aplasia/...	OMIM:612651
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Xp22.13P22.2 Duplication Syndrome	2-3 toe syndactyly, Flared nostrils, Recurrent upper respiratory tract infections, Mandibular pro...	ORPHA:284180
Ring Chromosome 21 Syndrome	Azoospermia, Diabetes insipidus, Infertility, Narrow palm, Short stature, Microcephaly, Abnormal ...	ORPHA:1445
Obesity And Hypopigmentation	Obesity, Hepatic steatosis, Overgrowth	OMIM:620195
Distal Monosomy 7Q36	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:1636
Orofaciodigital Syndrome I	Radial deviation of finger, Hypothalamic hamartoma, Myelomeningocele, Microcephaly, Abnormal hear...	OMIM:311200
Fontaine Progeroid Syndrome	Retrognathia, Microphthalmia, Proptosis, Everted lower lip vermilion, Microdontia, Death in infan...	OMIM:612289
Mehmo Syndrome	Delayed puberty, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulat...	OMIM:300148
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Radial deviation of finger, Microcephaly, Umbilical hernia, Clinodactyly, Coxa valga, Perimembran...	OMIM:301040
Cornelia De Lange Syndrome 5	Retrognathia, Proximal placement of thumb, Microcephaly, Hypogonadism, Long philtrum, Ventriculom...	OMIM:300882
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Cyclopia, Hypoplasia of penis, Narrow mouth, Mandibular aplasia, Holopros...	ORPHA:990
Rudiger Syndrome	Single transverse palmar crease, High axial triradius, Bicornuate uterus, Death in infancy, Ovari...	OMIM:268650
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovar...	ORPHA:95699
Distal Deletion 13Q	Abnormality of the hand, Iris coloboma, Anencephaly, Encephalocele, Abnormal metacarpal morpholog...	ORPHA:1590
Prader-Willi Syndrome Due To Translocation	Retrognathia, Proptosis, Everted lower lip vermilion, Microcephaly, Abnormal heart morphology, Bi...	ORPHA:177907
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop...	OMIM:615382
Xq27.3Q28 Duplication Syndrome	Thin vermilion border, Bulbous nose, Decreased testicular size, Short stature, Failure to thrive,...	ORPHA:261483
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Joint hypermobility, Long ph...	ORPHA:439822
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Tooth malposition, Short stature, Abnormal dental morphology, Obesity, Hypog...	ORPHA:85274
Holoprosencephaly 5	Central diabetes insipidus, Semilobar holoprosencephaly, Orofacial cleft, Hypotelorism, Alobar ho...	OMIM:609637
Alkuraya-Kucinskas Syndrome	Small scrotum, Adducted thumb, Overlapping toe, Ventriculomegaly, Clinodactyly, Hydrocephalus, An...	OMIM:617822
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypotelorism, Hypospadias, Oligodontia, Pulmonary sequestration, Short stature, Lateral ventricle...	OMIM:618330
Temple Syndrome	Relative macrocephaly, Bifid uvula, Intrauterine growth retardation, Joint hypermobility, Clinoda...	OMIM:616222
Jacobsen Syndrome	Microphthalmia, Microcephaly, Intrauterine growth retardation, Hypospadias, Labial hypoplasia, Hy...	OMIM:147791
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Mesoaxial polydactyly, Hypothalamic hamartoma, Thyroid hypoplasia...	ORPHA:672
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Bifid scrotum, Death in infa...	OMIM:270400
1Q41Q42 Microdeletion Syndrome	Hypotelorism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Short stature, Growth de...	ORPHA:250999
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Optic nerve hypoplasia, Proptosis, Abnormal periventricular white matter morphology...	ORPHA:468631
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Proximal placement of thumb, Hypoplasia of penis, Proptosis, Tooth agenesis...	ORPHA:818
1Q21.1 Microduplication Syndrome	Macrocephaly, Hypospadias, Hydrocephalus, Cryptorchidism, Arthrogryposis multiplex congenita, Fai...	ORPHA:250994
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Proptosis, Microcephaly, Mesomelia, Intrauterine growth retardation, Aplasia/Hypopla...	ORPHA:1908
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size...	ORPHA:3085
Charge Syndrome	Delayed puberty, Microphthalmia, Bifid scrotum, Anosmia, Tracheoesophageal fistula, Microcephaly,...	ORPHA:138
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Cleft ala nasi, Anophthalmia, Dandy-Walker mal...	OMIM:164180
Short Stature-Micrognathia Syndrome	Retrognathia, Microcephaly, Broad femoral neck, Small scrotum, Joint hypermobility, Intrauterine ...	OMIM:617164
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Long philtrum, Craniosynostosis, Hypospadias, Hydrocephalus, Anteverted nares, ...	ORPHA:171839
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Hypospadias, Short philtrum, An...	OMIM:618316
Hydrolethalus	Retrognathia, Microphthalmia, Gingival cleft, Anencephaly, Abnormal fallopian tube morphology, An...	ORPHA:2189
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Short philtrum, Alobar holoprosencephaly, High palate, Decreased tes...	OMIM:615433
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Microphthalmia, Hypotelorism, Abnormal external genitalia, Narrow mo...	ORPHA:3469
Developmental Delay With Or Without Dysmorphic Facies And Autism	Microcephaly, Wide mouth, Umbilical hernia, Small scrotum, Ventriculomegaly, Narrow nose, 2-3 toe...	OMIM:618454
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn...	ORPHA:220386
Alobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Microcephaly, Abn...	ORPHA:93924
Microphthalmia With Limb Anomalies	Retrognathia, Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocati...	OMIM:206920
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hypothalamic hamartoma, Short ribs, Death in infancy, Microcephaly, Hip ...	OMIM:241800
10Q22.3Q23.3 Microduplication Syndrome	Hypotelorism, Hypospadias, Abnormality of the philtrum, Abnormality of the dentition, Abnormal ri...	ORPHA:276422
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Abnormal palate morphology, Hypotelorism, Clinodactyly of the 5th ...	ORPHA:3082
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Short nose, Hypoplasia of the corpus callosum, Patent foramen ovale, ...	OMIM:619179
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Infertility, Osteoporosis, Female hypogonadism, Oligomenorr...	ORPHA:397685
Degcags Syndrome	Retrognathia, Microphthalmia, Proptosis, Pulmonic stenosis, Microcephaly, Wide mouth, Syndactyly,...	OMIM:619488
Raine Syndrome	Subperiosteal bone formation, Cerebral calcification, Proptosis, Microdontia, Death in infancy, M...	OMIM:259775
Ring Chromosome 22 Syndrome	Wide nasal base, Azoospermia, 2-3 toe syndactyly, Pleural effusion, Protruding tongue, Growth del...	ORPHA:1446
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Death in infancy, Pulmonic stenosis, Abnormal ...	ORPHA:7
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Maternal Hyperthermia-Induced Birth Defects	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:2216
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Occipital encephalocele, Radial deviation of finger, Microphthalmia, A...	OMIM:249000
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Sandal gap, Relative macrocephaly, Wide mouth, Hypogonadism, Joint hypermobility...	OMIM:300354
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short long bone, Short ribs, Intestinal malrotation, Intrauterine growth retardation...	OMIM:269860
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Macrocephaly, Encephalocele, Hydrocephalus, Proptosis, Aplasia/Hy...	ORPHA:93274
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Optic nerve hypoplasia, Pulmonic stenosis, Microcephaly, Intrau...	OMIM:301056
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Short stature, Polycyst...	ORPHA:1643
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Mandibular prognathia, Abnormal atrioventricular valve morphology, Eve...	ORPHA:324410
Wilson-Turner Syndrome	Malar prominence, Short foot, Short stature, Micrognathia, Thin upper lip vermilion, Broad nasal ...	ORPHA:3459
Seckel Syndrome 7	Abnormal carpal morphology, Hypotelorism, Clinodactyly of the 5th finger, Madelung deformity, Sho...	OMIM:614851
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
Meningioma	Urinary incontinence, Neoplasm of the tongue, Proptosis, Impotence, Decreased circulating cortiso...	ORPHA:2495
Bardet-Biedl Syndrome 5	Polydactyly, External genital hypoplasia, Obesity, Syndactyly, Hypogonadism, Brachydactyly, Micro...	OMIM:615983
Proboscis Lateralis	Microphthalmia, Optic nerve hypoplasia, Proptosis, Ureteral agenesis, Long philtrum, Ventriculome...	ORPHA:141099
Ritscher-Schinzel Syndrome 4	Proptosis, Limited knee extension, Wide mouth, Mild fetal ventriculomegaly, Joint hypermobility, ...	OMIM:619435
Temple Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Clinodactyly...	ORPHA:254516
Holoprosencephaly 9	Microphthalmia, Thin corpus callosum, Solitary median maxillary central incisor, Optic nerve hypo...	OMIM:610829
Non-Distal Duplication 13Q	Short nose, Thin vermilion border, Hypotelorism, Postaxial hand polydactyly, High palate, Everted...	ORPHA:1702
Koolen-De Vries Syndrome	Prominent fingertip pads, Everted lower lip vermilion, Pulmonic stenosis, Microcephaly, Intrauter...	OMIM:610443
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, 11 pairs of ribs, Hypoplasia of penis, Hydrocephalus, Anophthalmia, ...	ORPHA:77298
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Microphthalmia, Hypospadias, Hydrocephalus, Coloboma, Shor...	ORPHA:141333
Bangstad Syndrome	Hyperinsulinemia, Abnormal testis morphology, Intrauterine growth retardation, Abnormality of the...	ORPHA:1227
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Hypoplasia of penis, Joint hypermobility, Recurrent fr...	ORPHA:2772
Developmental And Epileptic Encephalopathy 80	Proptosis, Death in infancy, Wide mouth, Long philtrum, Short distal phalanx of finger, Ventricul...	OMIM:618580
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Short foot, Microcephaly, Obesity, Cryptorchidism, Tapered finger	OMIM:309585
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Ectopic kidney, Disproportionate short-limb short stature, Microcephaly, Intrauterine ...	OMIM:616541
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Microphthalmia, Short nose, Enlarged kidney, Encephalocele,...	OMIM:613885
Luscan-Lumish Syndrome	Long nose, Advanced ossification of carpal bones, Macrocephaly, Mandibular prognathia, Overgrowth...	OMIM:616831
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Delayed puberty, Hypoplasia of the corpus callosum, Hypotelorism, Small for gestational age, Olig...	OMIM:616817
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Poly...	ORPHA:2229
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Dental crowding, Proptosis, Contracture of the proximal interphalangeal joint...	OMIM:617201
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Ventriculomegaly, Craniosyn...	OMIM:175700
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Microcephaly, Bifid uvula, Ventriculomegaly, Abnormal cortic...	ORPHA:899
48,Xxyy Syndrome	Tall stature, Hypoplasia of penis, Joint hypermobility, Ventriculomegaly, Taurodontia, Broad jaw,...	ORPHA:10
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hypoplasia of the corpus callosum, Polymicrogyria, Mandibular prognathia, Gray matter heterotopia...	OMIM:604317
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ...	ORPHA:90793
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Microcephaly, Intrauterine growth retardation, Joint hypermobility, Long philtru...	ORPHA:391408
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, High, narrow palate, Cubitus valgus, Azoospermia, Hydrocephalus, Abnormalit...	ORPHA:2183
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Optic nerve hypopl...	ORPHA:95494
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Tall stature, Broad alveolar ridges, Microcephaly, Syndactyly, Intrauterine growt...	OMIM:616975
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Hypoplasia of the prostate, Widely spaced toes, Shortening of all middle phalang...	OMIM:301900
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov...	ORPHA:249
Trisomy 18P	Thin vermilion border, High, narrow palate, Hypotelorism, Abnormal finger morphology, Narrow mout...	ORPHA:1715
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Radial club hand, Proptosis, Microcephaly, Cleft palate, Holoprosencephaly, Abnormal ce...	ORPHA:2165
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Optic nerve hypoplasia, Abnormal heart morphology, Cervical ribs, Intrauterin...	ORPHA:508488
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Microphthalmia, Hypotelorism, Orofaci...	ORPHA:3186
Holoprosencephaly 14	Subependymal cysts, Microcephaly, Ventriculomegaly, Cyclopia, Proboscis, Hydrocephalus, Anteverte...	OMIM:619895
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Hypertrophic cardiomyop...	OMIM:619902
Short Syndrome	Radial deviation of finger, Dental malocclusion, Slender long bone, Delayed eruption of teeth, Sm...	OMIM:269880
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Joint stiffness, Aplasia of the nasal bone, Colpocephal...	OMIM:618820
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Obesity, Malar flattening, ...	OMIM:615984
Hadziselimovic Syndrome	Hypoplasia of the corpus callosum, Thick lower lip vermilion, Hypotelorism, Anteverted nares, Ven...	OMIM:612946
Carpenter Syndrome 1	Flared iliac wing, Agenesis of permanent teeth, Pulmonic stenosis, Duplication of the proximal ph...	OMIM:201000
Mental retardation, x-linked, syndromic, Turner type	Limited elbow extension, Macrocephaly, Tapered finger, Holoprosencephaly, Macroorchidism	OMIM:300706
Holoprosencephaly 3	Abnormality of the nose, Central diabetes insipidus, Cyclopia, Hypotelorism, Proboscis, Single na...	OMIM:142945
Neurooculorenal Syndrome	Thin corpus callosum, Intestinal malrotation, Decreased circulating cortisol level, Mitral valve ...	OMIM:620305
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Mccune-Albright Syndrome	Abnormal femur morphology, Ovarian cyst, Polyostotic fibrous dysplasia, Monostotic fibrous dyspla...	ORPHA:562
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Short nose, Hypoplastic female external genitalia, Long philtr...	OMIM:618577
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Hypertrop...	OMIM:613673
Emanuel Syndrome	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bifid uvula, Hypogonadis...	ORPHA:96170
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Subperiosteal bone formation, Short long bone, Femoral bowing, Short ribs, Ovari...	OMIM:618188
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Progressive microcephaly, Death in infancy, Microcephaly, Bifid uvula, Intrau...	OMIM:618622
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Bone cyst, Mandibular prog...	ORPHA:528
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Sandal gap, Prominent fingertip pads, Proptosis, Microceph...	ORPHA:96148
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Gonadal dysgenesis, Non-midline cleft of the upper li...	ORPHA:1770
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Proptosis, Arachnodactyly, Severe short stature, Small scrotum, Long philt...	ORPHA:2215
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intestinal polyposis, Abnormality of the upper limb, Microcephaly, Intrauterine g...	ORPHA:1052
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Severe failure to thrive, Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar cr...	ORPHA:3304
Meckel Syndrome 14	Pneumothorax, Occipital encephalocele, Microphthalmia, Retrognathia, Anteverted nares, Polycystic...	OMIM:619879
Diarrhea 13	Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration	OMIM:620357
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Everted lower lip vermilion, Microcephaly, Wide mouth,...	OMIM:212066
Harrod Syndrome	Long nose, Abnormal shoulder morphology, Hypotelorism, Hypospadias, High palate, Abnormal pelvic ...	ORPHA:2115
Pituitary Stalk Interruption Syndrome	Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Septo-optic dysplas...	ORPHA:95496
Charge Syndrome	Delayed puberty, Microphthalmia, Anosmia, Absent tibia, Tracheoesophageal fistula, Pulmonic steno...	OMIM:214800
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Holoprosencephaly 7	Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Shallow orbits...	OMIM:610828
19P13.12 Microdeletion Syndrome	Sandal gap, Proptosis, Microcephaly, Intrauterine growth retardation, Ventriculomegaly, Craniosyn...	ORPHA:254346
Williams-Beuren Region Duplication Syndrome	Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Macroce...	OMIM:609757
Holoprosencephaly 2	Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Proptosis, Mic...	OMIM:157170
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Everted lower lip vermilion, Umbilical hernia, Overlapping toe, Hip dislocation, ...	OMIM:613884
Donohue Syndrome	Postnatal growth retardation, Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, T...	OMIM:246200
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Secondary microcephaly, Hypotelorism, Broad secondary alveolar ridg...	ORPHA:3369
Acrootoocular Syndrome	Wide nasal base, Sandal gap, Short metacarpal, Prominent calcaneus, Microcephaly, Palmar hyperker...	ORPHA:2980
Mosaic Variegated Aneuploidy Syndrome 2	Severe intrauterine growth retardation, Microcephaly, Intrauterine growth retardation, Craniosyno...	OMIM:614114
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Short 4th metac...	ORPHA:1772
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of penis, Abnormality of the philt...	ORPHA:2935
Microphthalmia, Syndromic 2	Microphthalmia, Sandal gap, Bifid nasal tip, Pulmonic stenosis, Aortic valve stenosis, Microcepha...	OMIM:300166
Culler-Jones Syndrome	Hypotelorism, Diabetes insipidus, Anterior pituitary hypoplasia, Postaxial polydactyly, Short sta...	OMIM:615849
Ring Chromosome 7 Syndrome	Severe intrauterine growth retardation, Microcephaly, Bifid uvula, Hypogonadism, Short 5th finger...	ORPHA:1449
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypoplasia of the corpus callosum, Hypotelorism, Clinodactyly of the 5th finger, Ventriculomegaly...	OMIM:618974
Down Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Sandal gap, Microdontia, Umbilical h...	ORPHA:870
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypotelorism, Unilateral renal agenesis, Hyposmia, Anosmia, Cleft upper lip, Cleft palate, Primar...	OMIM:244200
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Proptosis, Small scrotum, Ventriculomegaly, Short 4th...	ORPHA:264200
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Cerebrooculonasal Syndrome	Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,...	OMIM:605627
Filippi Syndrome	Proptosis, Microdontia, Microcephaly, 2-4 toe syndactyly, Intrauterine growth retardation, Short ...	OMIM:272440
Chung-Jansen Syndrome	Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:617991
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Bardet-Biedl Syndrome 16	Polydactyly, External genital hypoplasia, Bronchiolitis, Renal cyst, Short stature, Obesity, Hypo...	OMIM:615993
Marshall-Smith Syndrome	Short nose, Retrognathia, Reduced bone mineral density, Craniosynostosis, Slender long bone, Ante...	ORPHA:561
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Hypotelorism, Single transverse palmar crease, Anteverted nares, Glossoptosis, High p...	OMIM:613604
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Pulmonic stenosis, Severe short stature, Intrauter...	OMIM:601186
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteolysis involving bones of the lower limbs, Premature thelarche, Nodular goiter, Mitral valve ...	ORPHA:371428
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy...	ORPHA:168558
Acalvaria	Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Abnormality of n...	ORPHA:945
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Abnormal cortical bone morphology, Cholelithiasis, Hydrocephalus, Decreased bod...	OMIM:614886
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Thin corpus callosum, Dilation of Virchow-Robin spaces, Hypoplastic coccygeal vertebrae, Dislocat...	OMIM:619512
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Intrauterine growth retardation, Joint hypermobility, Clinodactyly, Short philtrum, ...	ORPHA:96184
Bardet-Biedl Syndrome 10	Polydactyly, Renal cyst, Obesity, Hypogonadism, Renal insufficiency	OMIM:615987
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Limitation of joint mobility, Microce...	ORPHA:2570
Lig4 Syndrome	Hypotelorism, Clinodactyly of the 5th finger, Small for gestational age, Hypothyroidism, Failure ...	OMIM:606593
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Microcephaly, Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Ventriculomegal...	OMIM:614701
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi...	OMIM:101800
Mehmo Syndrome	External genital hypoplasia, Hypoplasia of penis, Cryptorchidism, Growth delay, Microcephaly, Obe...	ORPHA:85282
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve hypoplasia, Hypothalamic hamartoma, Microcephaly, Hypospadias, Crypto...	OMIM:206900
Fg Syndrome Type 1	Small pituitary gland, Clinodactyly of the 2nd finger, Optic nerve hypoplasia, Dental crowding, W...	ORPHA:93932
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hepatosplenomegaly,...	OMIM:612526
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Joint hypermobility, Ventriculomegaly, Long philtrum, Hip dislocation, Abnormal cort...	OMIM:300968
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Abnormality of the endocrine system, Microcephaly, Long philtrum, Anteverted nares,...	ORPHA:464288
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali...	ORPHA:261529
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Microcephaly, Multiple prenatal fractures, Unilateral c...	OMIM:616897
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Microcephaly, Short humerus, Hip dislocatio...	OMIM:602471
Chromosome Xq27.3-Q28 Duplication Syndrome	Thin vermilion border, Small for gestational age, Short foot, Bulbous nose, Decreased testicular ...	OMIM:300869
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypotelorism, Joint hypermobility, Narrow nasal ridge, Narrow mouth, Congenital hip dislocation, ...	OMIM:219150
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Long nose, Everted lower lip vermilion, Microcephaly, Intrauterine growth retard...	OMIM:615866
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Optic nerve hypoplasia, Thyroid ...	ORPHA:226307
Emanuel Syndrome	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Recurrent sinusitis, Int...	OMIM:609029
Holoprosencephaly 1	Cyclopia, Microphthalmia, Hypotelorism, Proboscis, Diabetes insipidus, Alobar holoprosencephaly, ...	OMIM:236100
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Long nose, Macrocephaly, Hypotelorism, Short philtrum, Cerebellar vermis hypoplasia, Mandibular p...	OMIM:300486
Bardet-Biedl Syndrome 19	Hypoplasia of the corpus callosum, External genital hypoplasia, Hyposmia, Y-shaped metacarpals, P...	OMIM:615996
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Radial deviation of finger, Hypoplastic philtrum, Microcephaly, Wide mouth, Hypogonadism, Small s...	OMIM:309580
Ataxia-Telangiectasia	Delayed puberty, Recurrent respiratory infections, Abnormal testis morphology, Short stature, Fai...	ORPHA:100
Intellectual Developmental Disorder, Autosomal Recessive 5	Postnatal growth retardation, Hypotelorism, Small for gestational age, Short philtrum, 4-5 toe sy...	OMIM:611091
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232700
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Bifid scrotum, Tracheoesophageal fistula, Broad thumb, Microcephaly,...	OMIM:107480
46,Xx Gonadal Dysgenesis	Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Reduced bone mineral densit...	ORPHA:243
Fraser Syndrome 1	Clitoral hypertrophy, Dental crowding, Myelomeningocele, Microcephaly, Abnormal heart morphology,...	OMIM:219000
Proteus-Like Syndrome	Bronchogenic cyst, Macrocephaly, Venous insufficiency, Hydrocephalus, Anteverted nares, Mandibula...	ORPHA:2969
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Progressive microcephaly, Death in infancy, Intrauterine growth retardation, Adduct...	OMIM:608779
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ...	ORPHA:1106
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Short stature, Cleft palate, Join...	OMIM:610125
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Microcephaly, Aplasia of the epiglottis, Cerebellar vermis h...	OMIM:615948
Peters Plus Syndrome	Ureteral duplication, Disproportionate short-limb short stature, Pulmonic stenosis, Microcephaly,...	ORPHA:709
Diabetic Embryopathy	Tall stature, Transposition of the great arteries, Ureteral duplication, Aplasia/Hypoplasia of th...	ORPHA:1926
X-Linked Intellectual Disability, Snyder Type	Megalencephaly, Ectopic kidney, Dental crowding, Proptosis, Everted lower lip vermilion, Arachnod...	ORPHA:3063
Coffin-Siris Syndrome 1	Retrognathia, Clitoral hypertrophy, Duodenal ulcer, Ectopic kidney, Sandal gap, Dislocated radial...	OMIM:135900
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl...	ORPHA:3409
Craniofacial Conodysplasia	Spinal cord compression	ORPHA:85168
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Relative macrocephaly, Short foot, Precocious puberty, ...	ORPHA:254525
Trigonocephaly 1	Short nose, High, narrow palate, Hypotelorism, Long penis, Meckel diverticulum, Microcephaly, Lon...	OMIM:190440
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy...	ORPHA:280356
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Hydroce...	ORPHA:2701
Hartsfield Syndrome	Microcephaly, Syndactyly, Craniosynostosis, Hypospadias, Diabetes insipidus, Gonadotropin deficie...	OMIM:615465
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Optic nerve hypoplasia, Septo-optic dysplasia, Microce...	OMIM:301043
Fanconi Anemia, Complementation Group D2	Microphthalmia, Ectopic kidney, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Microce...	OMIM:227646
Trigonocephaly With Short Stature And Developmental Delay	Lambdoidal craniosynostosis, Hypotelorism, Clinodactyly of the 5th finger, Broad alveolar ridges,...	OMIM:314320
Orofaciodigital Syndrome Type 4	Retrognathia, Proptosis, Microcephaly, Abnormal oral frenulum morphology, Bifid uvula, Severe sho...	ORPHA:2753
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Increased adipose tissue, Obesity	ORPHA:71529
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ...	ORPHA:2511
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Long philtrum, Hypotelorism, Joint hypermobility, Hydrocephalus, Narrow nasal ridge, ...	OMIM:612940
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short long bone, Proptosis, Short ribs, Hypoplastic ischia, Microcephaly, Abnormal h...	ORPHA:1865
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Short nose, External genital hypoplasia, Hypotelorism, Dental malocclusion, Progressi...	ORPHA:329178
Neu-Laxova Syndrome	Retrognathia, Cerebral calcification, Proptosis, Everted lower lip vermilion, Microcephaly, Bifid...	ORPHA:2671
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,...	ORPHA:139471
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Hypotelorism, Clinodactyly of the 5th finger, Abnorma...	ORPHA:1515
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Wide mouth, Joint hypermobility, Ventriculomegaly, Long philtrum, Cone-shaped epiphysis, Short fi...	OMIM:618659
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Baraitser-Winter Syndrome 1	Retrognathia, Microphthalmia, Aortic valve stenosis, Microcephaly, Wide mouth, Bicuspid aortic va...	OMIM:243310
Monosomy 18P	Microphthalmia, Short philtrum, Tooth malposition, Hypodontia, Hypothyroidism, Short stature, Car...	ORPHA:1598
Meckel Syndrome	Microphthalmia, Ureteral duplication, Anencephaly, Microcephaly, Pancreatic fibrosis, Encephaloce...	ORPHA:564
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity	OMIM:103200
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, High palate, Abnormal testis morphology, Short stature, Obesity, ...	ORPHA:2233
Bardet-Biedl Syndrome 4	Polydactyly, External genital hypoplasia, Abnormality of the dentition, Renal cyst, Obesity, Synd...	OMIM:615982
Kleefstra Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Microcephaly, Bicuspid aortic valve, Ventriculo...	ORPHA:261494
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Microcephaly, Intrauterine growth retardation, Abnormal...	ORPHA:251071
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Short stature, Obesity, Cryptorchidism	ORPHA:3055
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Reduced bon...	ORPHA:90796
Smith-Magenis Syndrome	Delayed puberty, Microcephaly, Joint stiffness, Ventriculomegaly, Delayed eruption of primary tee...	ORPHA:819
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ...	OMIM:602088
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal hand bone ossification, Short ribs, Decreased skull ossification, Hy...	OMIM:200600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Maturity-onset diabetes of the young, Wide nose, Short philtrum, Hi...	ORPHA:254531
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism	OMIM:202110
Bardet-Biedl Syndrome	Retrognathia, Childhood-onset truncal obesity, Chronic kidney disease, Abnormality of the endocri...	ORPHA:110
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Distal Deletion 15Q	Abnormal aortic arch morphology, Microcephaly, Double outlet right ventricle with doubly committe...	ORPHA:1596
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Increased adipose tissue, Cholestasis, Failure to thrive, Obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Increased adipose tissue, Cholestasis, Failure to thrive, Obesity	ORPHA:71526
Cohen Syndrome	Delayed puberty, Microphthalmia, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Microc...	ORPHA:193
48,Xxxy Syndrome	Tall stature, Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scrotum, Jo...	ORPHA:96263
Prader-Willi Syndrome	Delayed puberty, Radial deviation of finger, Syndactyly, Small scrotum, Intrauterine growth retar...	OMIM:176270
Fanconi Anemia	Abnormal carotid artery morphology, Microphthalmia, Abnormal femur morphology, Arteriovenous malf...	ORPHA:84
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Bifid scrotum, Pulmonic stenosis, Microcephaly, Left ventricular hyp...	OMIM:619148
1Q21.1 Microdeletion Syndrome	Microphthalmia, Broad thumb, Microcephaly, Intrauterine growth retardation, Joint hypermobility, ...	ORPHA:250989
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities...	OMIM:619737
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Angelman Syndrome	Cerebral dysmyelination, Widely spaced teeth, Precocious puberty in females, Mandibular prognathi...	ORPHA:72
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Tatton-Brown-Rahman Syndrome	Widely-spaced maxillary central incisors, Widely spaced toes, Macrocephaly, Patent ductus arterio...	ORPHA:404443
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Intellectual Developmental Disorder, Autosomal Recessive 13	Hypoplasia of the corpus callosum, Secondary microcephaly, Inferior cerebellar vermis hypoplasia,...	OMIM:613192
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Elevated circulating luteinizing hormone level, Synd...	OMIM:305400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Everted lower lip vermilion, Hypogonadism, External genital hypoplasia, Short philtrum, 4-5 toe s...	ORPHA:3041
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Ventricu...	OMIM:617516
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Diastrophic Dysplasia	Proximal placement of thumb, Cerebral calcification, Joint stiffness, Symphalangism affecting the...	ORPHA:628
Fraser Syndrome	Microphthalmia, Hypoplasia of penis, Abnormal vagina morphology, Dental crowding, Myelomeningocel...	ORPHA:2052
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Hartsfield Syndrome	Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Split hand, Lobar holoprosence...	ORPHA:2117
Tetralogy Of Fallot	Thin vermilion border, Clinodactyly of the 5th finger, Proptosis, Tetralogy of Fallot, Abnormal n...	ORPHA:3303
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:79084
Clark-Baraitser syndrome	Tall stature, Genu valgum, Macrocephaly, Thick lower lip vermilion, Anteverted nares, Prominent m...	OMIM:300602
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty...	OMIM:615938
Lowry-Maclean Syndrome	Retrognathia, Proptosis, Microcephaly, Short nasal bridge, Intrauterine growth retardation, Crani...	ORPHA:2409
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc...	ORPHA:98754
Trisomy 5P	Macrocephaly, Abnormal metacarpal morphology, Hypoplasia of penis, Short stature, Obesity, Ventri...	ORPHA:1742
Perrault Syndrome 4	Premature ovarian insufficiency, Cubitus valgus, Hypoplasia of the ovary, Secondary amenorrhea, B...	OMIM:615300
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Clinodactyly of the 5th finger, Unilateral renal agenesis, Short philtrum, 2-...	ORPHA:3306
Desmosterolosis	Retrognathia, Microcephaly, Intestinal malrotation, Bifid uvula, Severe short stature, Intrauteri...	ORPHA:35107
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormal hip...	ORPHA:3130
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyr...	ORPHA:739
Infantile Systemic Hyalinosis	Osteopenia, Abnormality of the adrenal glands, Macrocephaly, Steatorrhea, Osteomalacia, Gingival ...	ORPHA:2176
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Joubert Syndrome 37	Hypoplasia of the corpus callosum, Microphthalmia, Wide nose, Cerebellar vermis hypoplasia, Antev...	OMIM:619185
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Macroglossia, Bronchiectasis, Short stature, Sinusitis, Micrognathi...	OMIM:242860
Joubert Syndrome 1	Macrocephaly, Cerebellar vermis hypoplasia, Anteverted nares, Postaxial hand polydactyly, Nephrop...	OMIM:213300
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Tracheobronchomalacia, Abnormal periventricular white matter morphology, Microcephaly, Abnormal h...	ORPHA:500159
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc...	ORPHA:177901
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agen...	OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, Colpocephaly, Long philtrum, Ventriculomegaly, Short philtrum, Hydrocephalus, Polym...	OMIM:620156
Trisomy 17P	Hypoplasia of penis, Aortic valve stenosis, Microcephaly, Urethral valve, Wide mouth, Urethral st...	ORPHA:261290
Developmental And Epileptic Encephalopathy 36	Cerebral atrophy, Macrocephaly, Hydrocephalus, Anteverted nares, Microcephaly, Flexion contractur...	OMIM:300884
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc...	ORPHA:98793
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Radio-Tartaglia Syndrome	Retrognathia, Dental crowding, Microcephaly, Wide mouth, Long philtrum, Short philtrum, Anteverte...	OMIM:619312
Kallmann Syndrome	Delayed puberty, Reduced bone mineral density, Erectile dysfunction, Hypoplasia of penis, Dyspare...	ORPHA:478
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Cowden Syndrome 6	Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypothyroidism,...	OMIM:615109
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Short long bone, Proptosis, Glossoptosis, Microcephaly, Broad femoral n...	OMIM:611209
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Aminopterin Syndrome Sine Aminopterin	Megalencephaly, Macrocephaly, Microcephaly, Oligodontia, Decreased body weight, High palate, Umbi...	OMIM:600325
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Increased circula...	OMIM:201810
Schaaf-Yang Syndrome	Rocker bottom foot, Retrognathia, Mandibular prognathia, Abnormality of the philtrum, Tapered fin...	OMIM:615547
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, Oc...	ORPHA:177904
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Intellectual Developmental Disorder, Autosomal Dominant 7	Thick lower lip vermilion, Hypotelorism, Small for gestational age, Short stature, Microcephaly, ...	OMIM:614104
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Pulmonic stenosis, Microcephaly, Intrauterine growth retardation, Ventriculomegaly...	OMIM:257300
Focal Dermal Hypoplasia	Midclavicular aplasia, Microphthalmia, Ureteral duplication, Aniridia, Short ribs, Short metacarp...	OMIM:305600
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Hepatomegaly	ORPHA:2432
6P22 Microdeletion Syndrome	Abnormal palate morphology, Hypotelorism, Hydrocephalus, Finger syndactyly, Hydronephrosis, Paten...	ORPHA:251046
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Vesicoureteral refl...	ORPHA:85284
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebral atrophy, Secondary amenorrhea, Hypergonadotropic hypogonadism, Short stature, Broad palm...	OMIM:268020
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Microcephaly, Wide mouth, Long philtrum, Ventriculomegaly, Overlapping toe, Craniosynostosis, Cli...	OMIM:309590
Trichothiodystrophy	Gonadal dysgenesis, Retrognathia, Cerebral dysmyelination, Clubbing, Cardiomyopathy, Recurrent br...	ORPHA:33364
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Icf Syndrome	Macrocephaly, Communicating hydrocephalus, Short stature, Protruding tongue, Micrognathia, Umbili...	ORPHA:2268
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Microcephaly, Syndactyly, Intrauterine growth retardation, Ventriculomegal...	OMIM:151050
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia	OMIM:256450
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Anophthalmia, Mandibular prognathia, Cryptorchidism, Enamel hypo...	ORPHA:90322
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Proptosis, Short humerus, Hypoplastic facial bones, Intrauterine growth retar...	OMIM:264090
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig...	ORPHA:52901
Laurence-Moon Syndrome	Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Short stature...	ORPHA:2377
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ...	ORPHA:168563
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Cowden Syndrome 1	Narrow mouth, Thyroiditis, High palate, Furrowed tongue, Hemimegalencephaly, Hamartomatous polypo...	OMIM:158350
Vissers-Bodmer Syndrome	Tall stature, Decreased head circumference, Decreased body weight, Short stature, Holoprosencepha...	OMIM:619033
Cowden Syndrome 5	Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypothyroidism,...	OMIM:615108
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebral atrophy, Joint hypermobility, Single transverse palmar crease, Mandibular prognathia, Pr...	OMIM:617804
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Proptosis, Bifid first metacarpal, Short metacarpal, Death i...	OMIM:210710
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Microcephaly, Intrauterine growth retardation, Overlapping toe, Hypoplastic right h...	OMIM:618142
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Split foot, Microcephaly, Ureterocele, Abnormal nasopharynx morphology, Transverse v...	OMIM:129900
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Clitoral hypertrophy, Microphthalmia, Abnormal rectum morphology, Microcephaly, Sev...	ORPHA:2556
Apert Syndrome	Limited elbow movement, Megalencephaly, Proptosis, Shallow orbits, Broad thumb, Bifid uvula, Synd...	OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Hypotelorism, Macrocephaly, Overgrowth, Cryptorchidism, Growth delay, Microcephaly, ...	OMIM:617798
Williams Syndrome	Abnormal carotid artery morphology, Everted lower lip vermilion, Wide mouth, Joint hypermobility,...	ORPHA:904
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasi...	OMIM:181450
Yunis-Varon Syndrome	Rocker bottom foot, Clitoral hypertrophy, Microphthalmia, Broad secondary alveolar ridge, Absent ...	ORPHA:3472
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Cirrhosis, Hepatic steatosis	ORPHA:209919
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Clubbing, Abnormal inferior vena cava morphology, Intestinal malrota...	ORPHA:244
Schilbach-Rott Syndrome	Long nose, 2-3 toe cutaneous syndactyly, Hypotelorism, Hypospadias, Narrow mouth, Prominent nose,...	OMIM:164220
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Beemer Lethal Malformation Syndrome	Hydrocephalus, Ambiguous genitalia, Wide nasal bridge	OMIM:209970
Congenital Sialidosis Type 2	Polydactyly, Macrocephaly, Hydrocephalus, Gingival overgrowth, Protruding tongue, Abnormal heart ...	ORPHA:93400
Acrodysostosis	Abnormal female external genitalia morphology, Abnormal femur morphology, Short metacarpal, Hypog...	ORPHA:950
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Abnormal female external genitalia morphology, Hypoplastic iliac wing, Microdontia,...	ORPHA:2637
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Congenital malfo...	ORPHA:294975
Carney Complex	Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Neoplasm of the stomach, Increa...	ORPHA:1359
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Hypospadias, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacar...	OMIM:614613
Coffin-Siris Syndrome 12	Broad thumb, Microcephaly, Noncommunicating hydrocephalus, Joint hypermobility, Hypospadias, Ante...	OMIM:619325
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Atkin-Flaitz Syndrome	Macrocephaly, Anteverted nares, Everted lower lip vermilion, Abnormality of the dentition, Short ...	ORPHA:1193
Monosomy 18Q	Pulmonary valve defects, Aortic valve stenosis, Arachnodactyly, Abnormal palmar dermatoglyphics, ...	ORPHA:1600
Intellectual Developmental Disorder, Autosomal Dominant 58	Single transverse palmar crease, Dental crowding, High palate, Protruding tongue, Short stature, ...	OMIM:618106
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Hypotelorism, Clinodactyly of the 5th finger, Short philtrum, ...	OMIM:618672
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced bone minera...	ORPHA:2235
Opitz Gbbb Syndrome	Bifid scrotum, Tracheoesophageal fistula, Microcephaly, Abnormal heart morphology, Recurrent aspi...	ORPHA:2745
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Blomstrand Lethal Chondrodysplasia	Short ribs, Proptosis, Short metacarpal, Mesomelia, Abnormal epiphysis morphology, Long philtrum,...	ORPHA:50945
Vici Syndrome	Everted upper lip vermilion, Cardiomyopathy, Microcephaly, Abnormal thymus morphology, Left ventr...	OMIM:242840
Premature Aging Syndrome, Penttinen Type	Retrognathia, Microphthalmia, Tibial bowing, Proptosis, Shallow orbits, Aplasia of the nasal bone...	OMIM:601812
Genitopalatocardiac Syndrome	Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Non-midline cleft of the upper lip, Pos...	ORPHA:2075
Neu-Laxova Syndrome 1	Rocker bottom foot, Microphthalmia, Radial deviation of finger, Swollen lip, Proptosis, Intrauter...	OMIM:256520
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Hypotelorism, Meckel diverticulum, Bilateral cryptorchidism, Short stature, Cario...	OMIM:616395
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Jo...	OMIM:619951
Moebius Syndrome	Microphthalmia, Radial deviation of finger, Bifid uvula, Syndactyly, Abnormal nasopharynx morphol...	OMIM:157900
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w...	ORPHA:890
Intellectual Developmental Disorder, Autosomal Dominant 72	Tall stature, Macrocephaly, Spina bifida, Microcephaly, Renal hypoplasia, Obesity, Smooth philtru...	OMIM:620439
Joubert Syndrome 15	Preaxial polydactyly, Nephronophthisis, Coloboma, Micropenis, Ambiguous genitalia, Exencephaly	OMIM:614464
Morbid Obesity And Spermatogenic Failure	Obesity, Hepatic steatosis	OMIM:615703
Simpson-Golabi-Behmel Syndrome, Type 2	Short finger, Macrocephaly, Recurrent lower respiratory tract infections, Postaxial hand polydact...	OMIM:300209
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Joint hypermobility, Glossoptosis, Oral synechia, Radial deviatio...	ORPHA:1388
Oculodentodigital Dysplasia	Cerebral calcification, Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Ap...	ORPHA:2710
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Microcephaly, Bifid uvula...	OMIM:601808
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hypoplasia of the corpus callosum, Macrocephaly, Hydrocephalus, Polymicrogyria, Postaxial hand po...	OMIM:615937
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Microcephaly, Umbilical hernia, Intrauterine growth retardation, Overlappin...	ORPHA:99843
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Micr...	ORPHA:2232
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Microphthalmia, Megalencephaly, Joint hypermobility, Cavum septum pellucidum, Hydroc...	OMIM:602501
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Narrow palate, Hypotelorism, Clinodactyly of the 5th ...	ORPHA:794
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal ...	OMIM:261540
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Decreased testicular size, Obesity, Recurrent pneumonia, Hypogonadism, Pr...	OMIM:614962
Microphthalmia, Syndromic 6	Retrognathia, Microphthalmia, Inferior cerebellar vermis hypoplasia, Female hypogonadism, Microce...	OMIM:607932
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Thin corpus callosum, Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Umbilical hernia, C...	OMIM:280000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Short ph...	ORPHA:93267
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Wolf-Hirschhorn Syndrome	Aplasia of the uterus, Proptosis, Microcephaly, Craniofacial asymmetry, Intrauterine growth retar...	OMIM:194190
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Rhombencephalosynapsis	Polydactyly, Short nose, Macrocephaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, ...	ORPHA:59315
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R...	OMIM:224120
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Proptosis, Broad thumb, Long philtrum, Abnormal cortical gyration, Hypospadias, En...	ORPHA:2211
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada...	ORPHA:98798
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Rocker bottom foot, Clitoral hypertrophy, De...	OMIM:201750
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Lissencephaly 1	Secondary microcephaly, Dilation of Virchow-Robin spaces, Agyria, Gray matter heterotopia, Abnorm...	OMIM:607432
Robinow Syndrome	Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Proptosis, Pulmonic stenosis, A...	ORPHA:97360
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Microcephaly, Colpocephaly, Hypospadias, Hydrocephalus, Sho...	OMIM:309801
47,Xyy Syndrome	Male infertility, Finger clinodactyly, Macrocephaly, Hypospadias, Increased serum testosterone le...	ORPHA:8
Acromesomelic Dysplasia 3	Radial deviation of finger, Disproportionate short-limb short stature, Aplasia of the proximal ph...	OMIM:609441
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Microcephaly, Intrauterine growth retardation, Overlapping toe, Long philtrum, Ante...	OMIM:613792
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Hemorrhagic ovarian cyst, Gingival bleeding, Decreased testi...	ORPHA:335
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Short nose, Hypotelorism, Cerebral white matter atrophy, High palate, Dea...	OMIM:615042
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Postnatal growth retardation, Clinodactyly of the 5th finger, Small placenta, Small for gestation...	ORPHA:73272
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Dental crowding, Cardiomyopathy, Nephrocalcinosis, Increased pineal volume,...	ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Secondary microcephaly, Hypotelorism, Short philtrum, Low hanging columella, Prominent fingertip ...	OMIM:300986
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Tall stature, Optic nerve hypoplasia, Prominent fingertip pa...	OMIM:602535
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:618400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormal heart morphology, Wide mouth, Syndactyly, Umbilical hernia, Clinodactyly, Abnormality of...	ORPHA:369891
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormal finger morphology, Oligodactyly, Amelia, Tracheoesophageal fistula, Inte...	ORPHA:2538
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Retinal coloboma, Obesity, Hypogonadism, Cryptorchidism	OMIM:601794
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Hypothalamic hamartoma, Abnormal oral frenulum morphology, Abnormal heart ...	ORPHA:2754
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,...	OMIM:231060
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Limitation of joint mobility, High palate, Sho...	ORPHA:376
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Macrocephaly, Hydrocephalus, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephal...	OMIM:618709
Cerebrooculonasal Syndrome	Abnormal nostril morphology, Widely spaced teeth, Solitary median maxillary central incisor, Anop...	ORPHA:66625
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
2Q23.1 Microduplication Syndrome	Abnormality of the hand, Hypotelorism, Clinodactyly of the 5th finger, Sandal gap, Dental crowdin...	ORPHA:313947
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Increased serum testosterone level, Short philtrum, Abnormal vagina morphology, A...	ORPHA:247768
Nephronophthisis 15	Obesity, Elevated circulating hepatic transaminase concentration	OMIM:614845
2Q31.1 Microdeletion Syndrome	Microphthalmia, Sandal gap, Proptosis, Everted lower lip vermilion, Microcephaly, Long philtrum, ...	ORPHA:251014
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Hypoplasia of the corpus callosum, Hypotelorism, Progressive microcephaly, High...	OMIM:615760
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Coronary artery atherosclerosis, Secondary amenorrhea, Hypertrophic c...	ORPHA:2348
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Short stature, Microcephaly, Elevated circulating follicle stimul...	OMIM:614129
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Broad thumb, Arachnodactyly, Microcephaly, Intrauterine growth retardation, Ventric...	ORPHA:505237
C Syndrome	Clitoral hypertrophy, Radial deviation of finger, Dislocated radial head, Short metacarpal, Micro...	OMIM:211750
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Frontoocular Syndrome	Hypotelorism, Narrow philtrum, Proptosis, High palate, Narrow mouth, Pulmonic stenosis, Coronal c...	OMIM:605321
X-Linked Intellectual Disability, Cabezas Type	Sandal gap, Hypoplasia of penis, Cachexia, Microcephaly, Wide mouth, Hypogonadism, Joint hypermob...	ORPHA:85293
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia, Umbilical hernia, Crypto...	ORPHA:1918
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration,...	OMIM:201910
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cerebral atrophy, Hypoplasia of the corpus callosum, Tracheomalacia, Anteverted nares, Gingival o...	OMIM:618797
Chromosome 5P13 Duplication Syndrome	Macrocephaly, Hypotelorism, Short philtrum, Low hanging columella, Single transverse palmar creas...	OMIM:613174
Silver-Russell Syndrome	Sandal gap, Abnormal vagina morphology, Abnormal male external genitalia morphology, Cachexia, De...	ORPHA:813
7Q11.23 Microduplication Syndrome	Retrognathia, Aortic valve stenosis, Joint hypermobility, Ventriculomegaly, Craniosynostosis, Abn...	ORPHA:96121
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Hypotelorism, Clinodactyly of the 5th finger, Cerebellar vermis hy...	OMIM:619123
Pseudohypoparathyroidism, Type Ia	Short finger, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to ...	OMIM:103580
Preeclampsia	Pulmonary edema, Acute kidney injury, Proteinuria, Chronic kidney disease, Intrauterine growth re...	ORPHA:275555
Kabuki Syndrome	Hypoplasia of penis, Microdontia, Microcephaly, Joint hypermobility, Short 5th finger, Ventriculo...	ORPHA:2322
Spermatogenic Failure 17	Male infertility	OMIM:617214
Vacterl With Hydrocephalus	Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Retrognathia, Esophageal atresia, ...	ORPHA:3412
Developmental And Epileptic Encephalopathy 87	Cerebral atrophy, Widely spaced teeth, Hypotelorism, Single transverse palmar crease, High palate...	OMIM:618916
Witteveen-Kolk Syndrome	Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Shallow orbits, Microcep...	OMIM:613406
Diencephalic Syndrome	Long penis, Hydrocephalus, Cachexia, Decreased body weight, Everted lower lip vermilion, Abnormal...	ORPHA:1672
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Enlarged kidney, Hypoplasia of the ovar...	ORPHA:79328
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hor...	OMIM:614837
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Anteverted nares, High palate, P...	OMIM:617062
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o...	ORPHA:2839
Lambotte Syndrome	Semilobar holoprosencephaly, Retrognathia, Narrow mouth, Microcephaly, Preaxial foot polydactyly,...	OMIM:245552
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Coloboma, Bilateral cleft palate, Amelia, Cleft upper lip, Holoprosenceph...	OMIM:601357
Megalencephaly	Atrial septal defect, Genu valgum, Macrocephaly, Truncal obesity, Long penis, Deeply set eye, Wid...	ORPHA:2477
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Den...	OMIM:180849
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Micrognathia, Orbital craniosynostosis, Cerebellar hypo...	ORPHA:1538
Otopalatodigital Syndrome Type 2	Glossoptosis, Myelomeningocele, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Abnorm...	ORPHA:90652
Intellectual Developmental Disorder, X-Linked 91	Short nose, Cubitus valgus, High palate, Short foot, Obesity, Short 5th finger, Clinodactyly, Mac...	OMIM:300577
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Left ventricular hyper...	OMIM:619048
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Kbg Syndrome	Widely-spaced maxillary central incisors, Finger clinodactyly, Single transverse palmar crease, A...	ORPHA:2332
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Orofacial cleft, Microphthalmia, Hydrocephalus, Aplasia/Hypoplasia of the...	ORPHA:3301
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Prominent fingertip pads, Abnormal heart morphology, Joint hypermobility, Overlap...	OMIM:618494
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Anosm...	OMIM:614841
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ...	ORPHA:1507
Wagr Syndrome	Everted lower lip vermilion, Short stature, Microcephaly, Micrognathia, Obesity, Displacement of ...	ORPHA:893
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of the 5th finger, Patent ductus ar...	ORPHA:1516
Intellectual Developmental Disorder, Autosomal Dominant 74	Hypotelorism, Microcephaly, Smooth philtrum, Prominent nose, Deeply set eye, Hypertelorism, Intra...	OMIM:620688
Cockayne Syndrome Type 1	Postnatal growth retardation, Hypoplasia of the primary teeth, Foot joint contracture, Anophthalm...	ORPHA:90321
Intellectual Developmental Disorder, X-Linked 12	Hip subluxation, Cerebellar vermis hypoplasia, Microphallus, Short stature, Microcephaly, Abnorma...	OMIM:300957
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Azoospermia, Microcephaly, 2-4 toe syndactyly, Syndactyly, Male hypogonadism	OMIM:241000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Dental crowding, Thyroid hypoplasia, Internally rotated shoulders, Unicorn...	OMIM:619503
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D...	ORPHA:90795
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Relative macrocephaly, Microdontia,...	ORPHA:251028
Leopard Syndrome 1	Delayed puberty, Limited elbow movement, Hypoplasia of the ovary, Pulmonic stenosis, Mitral valve...	OMIM:151100
Pparg-Related Familial Partial Lipodystrophy	Maternal diabetes, Coronary artery atherosclerosis, Secondary amenorrhea, Prominent veins on trun...	ORPHA:79083
Mmep Syndrome	Orofacial cleft, Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Ventricular septal d...	ORPHA:3434
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Borjeson-Forssman-Lehmann Syndrome	Orofacial cleft, Macrocephaly, Abnormal hip bone morphology, Hypoplasia of penis, Decreased testi...	ORPHA:127
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Retrognathia, Decreased cirrculating antimullerian hormone circulation, Elevated circulating lute...	OMIM:300845
Agnathia-Otocephaly Complex	Situs inversus totalis, Aglossia, Wide nose, Tracheomalacia, Narrow mouth, Mandibular aplasia, Mi...	OMIM:202650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Osteolytic defects of the phalanges of the hand, Coronary artery athe...	ORPHA:280365
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Weaver Syndrome	Abnormal metaphysis morphology, Retrognathia, Tall stature, Macrocephaly, Long philtrum, Sandal g...	ORPHA:3447
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
Schinzel-Giedion Syndrome	Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Proptosis, Shallow orbits, Abnor...	ORPHA:798
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Osteopenia, Partial anosmia, Anomalous origin of left coronary artery from the p...	ORPHA:2326
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Chromosome 14Q11-Q22 Deletion Syndrome	Thin corpus callosum, Microcephaly, Mesomelia, Long philtrum, Renal tubular acidosis, Patent fora...	OMIM:613457
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h...	ORPHA:231720
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Thin corpus callosum, Dental crowding, Ventricular hypertrophy, Pulmonic stenosis, ...	OMIM:620654
Laurin-Sandrow Syndrome	Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo...	ORPHA:2378
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Broad thumb, Microcephaly, Long philtrum, Ventriculomegaly, Intrauterine growth ret...	OMIM:617452
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Severe intraut...	OMIM:218600
Roifman Syndrome	Bilateral single transverse palmar creases, Microcephaly, Intrauterine growth retardation, Long p...	ORPHA:353298
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd finger, Broad thumb, Coxa valga, Labial hypoplasia, Cerebellar vermis hyp...	OMIM:620073
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue, Microcephaly, Abnormal heart morphology	DECIPHER:52
Distal Triplication 15Q	Retrognathia, Birth length greater than 97th percentile, Arachnodactyly, Abnormal heart morpholog...	ORPHA:314588
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Abnormal nasal base norphology...	ORPHA:1919
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Hypoplasia of the corpus callosum, Thin corpus callosum, Cortical dysplasia, Agyria, Gray matter ...	OMIM:615411
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Ure...	OMIM:614527
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Hypotelorism, Clinodactyly of the 5th finger, Madelung deformity, Sev...	ORPHA:319675
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Wide mouth, Overlapping toe, Hypospadias, Patent f...	ORPHA:163956
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Long philtrum, Ectopic kidney, Dislocated radial head, Limited elbow extension and su...	ORPHA:401935
Laron Syndrome	Delayed puberty, Hypoplasia of penis, Abnormality of the endocrine system, Delayed eruption of te...	ORPHA:633
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h...	OMIM:202150
Beckwith-Wiedemann Syndrome	Enlarged kidney, Neonatal hypoglycemia, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux...	OMIM:130650
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Bifid distal phalanx of the thumb, Elevated circulating luteinizing hormone l...	OMIM:618419
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity	ORPHA:88643
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Multiple joint contractures, Holoprosencephaly, Microcephaly	OMIM:306990
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Relative macrocephaly, Bro...	OMIM:305450
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Broad thumb, Microcephaly, Wide mouth, Umbilical hernia, Bicuspid aortic valve, Patent foramen ov...	ORPHA:329224
Vici Syndrome	Hypotelorism, Renal tubular acidosis, Cardiomyopathy, Gray matter heterotopia, High palate, Death...	ORPHA:1493
Cystic Echinococcosis	Bone cyst, Abnormal subpleural morphology, Abnormality of the testis size, Renal cyst, Abnormal h...	ORPHA:400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Hypoplasia of the corpus callosum, Hypotelorism, Cerebral white matter hypoplasia, Microcephaly, ...	OMIM:619091
Bardet-Biedl Syndrome 2	External genital hypoplasia, Postaxial hand polydactyly, Obesity, Hypogonadism, Bicuspid aortic v...	OMIM:615981
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Abnormal la...	ORPHA:251510
Developmental And Epileptic Encephalopathy 100	Cerebral atrophy, Thin corpus callosum, Polymicrogyria, Single transverse palmar crease, Elbow fl...	OMIM:619777
Estrogen Resistance Syndrome	Osteopenia, Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Tall s...	ORPHA:785
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ...	ORPHA:1263
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Microphthalmia, Short long bone, Flat acetabular roof, Relative mac...	OMIM:616300
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Cerebellar vermis hypoplasia, Choanal atresia, P...	ORPHA:98889
Aarskog-Scott Syndrome	Everted lower lip vermilion, Umbilical hernia, Joint hypermobility, Long philtrum, Anteverted nar...	ORPHA:915
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, External genital hypoplasia, Short foot, Narrow palm, Short...	ORPHA:177910
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Single naris, Hypoplasia of penis, Anophthalmia, Hyp...	ORPHA:2250
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperintensity of cerebral white matter on MRI, Abnormality of globe size, Hypotelorism, High pal...	ORPHA:502423
Image Syndrome	Hypospadias, Adrenal hypoplasia, Micromelia, Hydronephrosis, Metaphyseal dysplasia, Hypogonadism,...	ORPHA:85173
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Retrognathia, Macrocephaly, Enuresis, Obesity, Broad nasal tip, Malar flattening, Ope...	OMIM:613670
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Meckel Syndrome 12	Rocker bottom foot, Anteverted nares, Cerebral hypoplasia, Microcephaly, Ureteral hypoplasia, Mic...	OMIM:616258
Acromelic Frontonasal Dysostosis	Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Bifid nasal tip, Calcification of falx ...	OMIM:603671
Bardet-Biedl Syndrome 22	Polydactyly, Large for gestational age, Macrocephaly, Microcephaly, Obesity, Hypogonadism, Postax...	OMIM:617119
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic ar...	ORPHA:96334
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, ...	OMIM:615873
Gorlin Syndrome	Ovarian fibroma, Cerebral calcification, Calcification of falx cerebri, Arachnodactyly, Abnormali...	ORPHA:377
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Retinal arterial tortuosity, Cerebral calcification, Everted lower lip verm...	OMIM:620371
Weyers Acrofacial Dysostosis	Hypotelorism, Clinodactyly of the 5th finger, Solitary median maxillary central incisor, Conical ...	OMIM:193530
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Abnormal rib morphology, Decreased testicular size, Abnormality of the humer...	ORPHA:2234
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:616829
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Craniotelencephalic Dysplasia	Microphthalmia, Hypotelorism, Craniosynostosis, Optic nerve hypoplasia, Agenesis of corpus callos...	OMIM:218670
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Microlissencephaly	Hypoplasia of the corpus callosum, Cerebral dysmyelination, Polymicrogyria, Thick cerebral cortex...	ORPHA:1083
Carpenter Syndrome	Polydactyly, External genital hypoplasia, Genu valgum, Patent ductus arteriosus, Craniosynostosis...	ORPHA:65759
Desbuquois Dysplasia 1	Sandal gap, Disproportionate short-limb short stature, Flat acetabular roof, Proptosis, Broad fem...	OMIM:251450
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
22Q11.2 Deletion Syndrome	Microphthalmia, Abnormal aortic arch morphology, Multiple suture craniosynostosis, Microcephaly, ...	ORPHA:567
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ...	OMIM:612964
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Coloboma, Short stature, Cleft palate, Short toe, Chorio...	ORPHA:921
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Desmosterolosis	Ambiguous genitalia, male, Relative macrocephaly, Microcephaly, Ventriculomegaly, Alveolar ridge ...	OMIM:602398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Congenital hypoparathyroidism, Severe intrauterine growth retardation, Microcepha...	OMIM:241410
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Renal tubular acidosis, Myoglobinuria, Increased body weight, Cardiomyopathy, Es...	ORPHA:264580
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Sever...	ORPHA:2658
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatomegaly, Hepatic steatosis, Hepatic failure	OMIM:617872
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Rhizomelic Limb Shortening With Dysmorphic Features	Macrocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joints...	OMIM:618821
Osteoglophonic Dysplasia	Eruption failure, Proptosis, Short metacarpal, Broad metatarsal, Shallow orbits, Broad thumb, Sev...	OMIM:166250
Bohring-Opitz Syndrome	Retrognathia, Hyperechogenic pancreas, Dislocated radial head, Bilateral cleft palate, Broad alve...	OMIM:605039
Intellectual Developmental Disorder, Autosomal Dominant 48	Tracheobronchomalacia, Microcephaly, Lateral ventricle dilatation, Umbilical hernia, Joint hyperm...	OMIM:617751
Developmental And Epileptic Encephalopathy 31B	Secondary microcephaly, Thin corpus callosum, Gingival overgrowth, Reduced cerebral white matter ...	OMIM:620352
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Abnormal rib morpholog...	OMIM:601076
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the corpus callosum, Semilobar holoprosencephaly, Long philtrum, Hypotelorism, Smal...	OMIM:618500
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe...	OMIM:604367
Richieri-Costa/Guion-Almeida Syndrome	Hypotelorism, Spina bifida occulta, Mandibular prognathia, Abnormal digit morphology, Short statu...	OMIM:268850
Oculocerebrocutaneous Syndrome	Orofacial cleft, Hydrocephalus, Polymicrogyria, Finger syndactyly, Dandy-Walker malformation, Abn...	ORPHA:1647
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Microphthalmia, Everted lower lip vermilion, Microcephaly, Contracture of the proxi...	ORPHA:464738
Gm1-Gangliosidosis, Type Ii	Cerebral atrophy, Gingival overgrowth, Narrow mouth, Protruding tongue, Joint stiffness, Failure ...	OMIM:230600
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Megalencephaly, Anterior hypopituitarism, Abnormal septum pellucidum ...	ORPHA:280195
Non-Acquired Isolated Growth Hormone Deficiency	Delayed puberty, Genu valgum, Anterior hypopituitarism, Microphallus, Growth delay, Short stature...	ORPHA:631
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Genu valgum, Cleft soft palate, Hypoplasia of the ovary, Hydrocephalus, Optic nerve h...	OMIM:619321
46,Xy Sex Reversal 4	Gonadal dysgenesis, Distal symphalangism, Long philtrum, Hypoplastic labia majora, Anteverted nar...	OMIM:154230
Congenital Hydrocephalus	Abnormal cortical gyration, Macrocephaly, Hydrocephalus, Small cerebral cortex, Abnormal heart mo...	ORPHA:2185
Frontonasal Dysplasia 1	Microphthalmia, Radial deviation of finger, Bifid nasal tip, Hypoplastic frontal sinuses, Clinoda...	OMIM:136760
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Periventricular white matter hyperintensities, Hypotelorism, Incisor mac...	OMIM:619719
Teebi Hypertelorism Syndrome 1	Dental crowding, Long philtrum, Anteverted nares, Bicornuate uterus, Short stature, Hypertelorism...	OMIM:145420
Autosomal Recessive Spondylocostal Dysostosis	Microcephaly, Umbilical hernia, Long philtrum, Intrauterine growth retardation, Hypospadias, Meni...	ORPHA:2311
Angelman Syndrome	Secondary microcephaly, Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia...	OMIM:105830
Tbck-Related Intellectual Disability Syndrome	Abnormal periventricular white matter morphology, Pulmonic stenosis, Microcephaly, Long philtrum,...	ORPHA:488632
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Joint hypermobility, Broad palm, Clinodactyly, Aganglionic me...	OMIM:190685
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicoureteral reflux, Abnormal aort...	ORPHA:1166
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Thin corpus callosum, Hypodontia, Bilateral coxa valga, Hypertrophic cardiomyopathy, Obesity, Int...	OMIM:620270
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist ...	OMIM:260660
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Microphthalmia, Atrioventricular canal defe...	OMIM:619135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Microphthalmia, Transposition of the great arteries, Cerebellar hypoplasia,...	OMIM:253800
Galloway-Mowat Syndrome	Aqueductal stenosis, Hypotelorism, Abnormality of the dentition, Short stature, Camptodactyly of ...	ORPHA:2065
Suleiman-El-Hattab Syndrome	Microcephaly, Wide mouth, Long philtrum, Clinodactyly, Polydactyly, Patent foramen ovale, Cryptor...	OMIM:618950
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Hypoplasia of the corpus callosum, Optic disc hypoplasia, Patent ductus a...	OMIM:300514
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Obesity, Cholesterol gall...	ORPHA:209902
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Obesity	ORPHA:171706
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hepatic steatosis, Lipodystrophy	OMIM:613877
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Death in childhood, Clinodactyly of the 5th finger, Knee flexion contracture, Antever...	OMIM:616809
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Narrow m...	ORPHA:83473
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Hypoplas...	OMIM:244300
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Postnatal growth retardation, Hypoplasia of the corpus callosum, Long philtrum, Prominent protrud...	ORPHA:480907
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Postnatal growth retardati...	ORPHA:54595
Autosomal Recessive Spastic Paraplegia Type 46	Cerebral atrophy, Abnormal sperm head morphology, Urinary incontinence, Infertility, Corpus callo...	ORPHA:320391
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Macrocephaly, Abnormal ilium morphology, Disproportionate short-l...	ORPHA:2655
Baller-Gerold Syndrome	Proptosis, Intrauterine growth retardation, Abnormal cardiac septum morphology, Abnormal carpal m...	ORPHA:1225
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Arachno...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Arachno...	ORPHA:363958
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Macrocephaly, Sandal gap, Hydrocephalus, Anteverted nares, Abnormal dental enamel morphology, Man...	ORPHA:2180
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Gra...	OMIM:604213
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Proptosis, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Short distal ph...	OMIM:616331
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h...	OMIM:615438
13Q12.3 Microdeletion Syndrome	Low insertion of columella, Oligodontia, Camptodactyly, Short stature, Failure to thrive, Obesity...	ORPHA:412035
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Shallow orbits, Microcephaly, Abnormal heart morphology, Bifid uvula, Intrauterine growth retarda...	ORPHA:453499
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hypoplasia of the corpus callosum, Dysplastic pulmonary valve, Anteverted nares, Decreased body w...	OMIM:300958
Ruvalcaba Syndrome	Delayed puberty, Limited elbow extension, Short metatarsal, Dental crowding, Underdeveloped nasal...	OMIM:180870
Myhre Syndrome	Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Aortic valve...	OMIM:139210
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
Chromosome 2P16.1-P15 Deletion Syndrome	Retrognathia, Optic nerve hypoplasia, Everted lower lip vermilion, Microcephaly, Arachnodactyly, ...	OMIM:612513
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Solitary median maxillary central incisor, Dental crowding, Microcephaly, Contractu...	OMIM:301044
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Hypospadias, Hydrocephalus, Ventricular septal defect, Short s...	OMIM:218350
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Inferior cereb...	OMIM:615485
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Short philtrum, Anophthalmia, Anteverted nares, Everted lower ...	ORPHA:411986
Amed Syndrome, Digenic	Adrenal hypoplasia, Short stature, Failure to thrive, Microcephaly, Persistent left superior vena...	OMIM:619151
Marden-Walker Syndrome	Microphthalmia, Inferior cerebellar vermis hypoplasia, Microcephaly, Arachnodactyly, Intrauterine...	OMIM:248700
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Wide nose, Oligodontia, Everted lower lip vermilion, Short stature, Obesity, Large hands, Anodont...	ORPHA:276630
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Microcephaly, Bifid uvula, Lateral ventricle dilatation, Abnormality of the anus,...	OMIM:607872
Digeorge Syndrome	Right aortic arch with mirror image branching, Microcephaly, Recurrent sinusitis, Ovarian cyst, B...	OMIM:188400
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microcephaly, Severe sho...	ORPHA:3255
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 2nd finger, Microcephaly, Nephroca...	ORPHA:264450
Testicular Anomalies With Or Without Congenital Heart Disease	Abnormality of thyroid physiology, Perineal hypospadias, Microphallus, Corpus cavernosum hypoplas...	OMIM:615542
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia, Osteoporosis, Cryptorchidism, Decreased testicular size, Absence of pubertal d...	OMIM:610628
Cerebrofacioarticular Syndrome	Pulmonic stenosis, Microcephaly, Abnormal heart morphology, Syndactyly, Ventriculomegaly, Hypospa...	ORPHA:314679
Congenital Factor Vii Deficiency	Gingival bleeding, Menorrhagia, Joint hemorrhage, Ovarian cyst, Epistaxis, Intracranial hemorrhage	ORPHA:327
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, Incr...	ORPHA:589905
Clark-Baraitser Syndrome	Short nose, Sandal gap, Low hanging columella, Short philtrum, Anteverted nares, Exaggerated cupi...	OMIM:617752
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo...	OMIM:615415
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr...	ORPHA:2703
Ovarian Dysgenesis 5	Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute...	OMIM:617690
Holoprosencephaly 11	Hypotelorism, Proptosis, Microcephaly, Cleft palate, Holoprosencephaly, Agenesis of corpus callos...	OMIM:614226
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Short nose, Retrognathia, Macrocephaly, Sandal gap, Hypoplasia of pen...	ORPHA:1812
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Hepatic steatosis, Lipodystrophy	OMIM:615980
Craniosynostosis 4	Retrognathia, Macrocephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypopl...	OMIM:600775
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Microcephaly, Short distal phal...	OMIM:210720
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Ectopic kidney, Hypoplastic iliac wing,...	OMIM:235510
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Microphthalmia, Abnormality of the palmar creases, Patent foramen ovale, ...	OMIM:618652
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Hydrocephalus, Cerebral white ma...	ORPHA:500055
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Hypotelorism, Solitary median maxillary central incisor, Small for g...	ORPHA:556955
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Small pla...	ORPHA:397590
Prune Belly Syndrome	Intestinal malrotation, Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormalit...	ORPHA:2970
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Hypoplasia of the corpus callosum, Microphthalmia, Hypospadias, Cer...	ORPHA:494344
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Ovarian fibroma, Hamartomatous stomach polyps, Calcification...	OMIM:109400
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disea...	OMIM:610475
Mosaic Trisomy 1	Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Wide mouth, Lateral ventricle ...	ORPHA:1692
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Sotos Syndrome	Tall stature, Increased body weight, Overgrowth, Joint hypermobility, Ventriculomegaly, Narrow pa...	OMIM:117550
Anophthalmia Plus Syndrome	Anophthalmia, Bilateral cleft palate, Non-midline cleft of the upper lip, Choanal atresia, Spina ...	ORPHA:1104
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ...	OMIM:618805
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis	OMIM:601466
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Rafiq Syndrome	Underdeveloped nasolabial fold, Clinodactyly of the 5th finger, Macrocephaly, Wide nose, Truncal ...	OMIM:614202
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Abnormal vagina morphology, Intrauterine growth retardation, Abnorma...	OMIM:236680
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Decreased skull ossification, Aortic valve stenosis, Int...	ORPHA:955
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly, Macrocephaly	OMIM:155350
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro...	ORPHA:90791
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypoplasia of the corpus callosum, Secondary microcephaly, Widely spaced teeth, Mandibular progna...	ORPHA:98794
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges...	ORPHA:2256
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Clubbing, Proptosis, Tibial bowing, Short metacarpal, ...	OMIM:108720
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Tapered finger, Congenital hyp...	ORPHA:352530
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Robinow Syndrome, Autosomal Dominant 3	Proptosis, Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypopl...	OMIM:616894
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Hypoplasia of penis, Abnormal finger mor...	ORPHA:3138
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Broad distal phalanx of finger, Intestinal malrotation, Abnormal oral frenulum mo...	ORPHA:404440
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, Hypotelorism, Hypospadias, Uric acid nephrolithiasis, High palate...	OMIM:300661
Estrogen Resistance	Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap...	OMIM:615363
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Hypospadias, Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Truncal obesity, Ab...	ORPHA:3224
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short metacarpal, Microcephaly, Umbilical hernia, Joi...	ORPHA:1001
Smith-Kingsmore Syndrome	Megalencephaly, Hemimegalencephaly, Perisylvian polymicrogyria, Wide mouth, Umbilical hernia, Lon...	OMIM:616638
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microphthalmia, Microlissencephaly, Optic nerve hypoplasia, Sm...	OMIM:617914
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Secondary microcephaly, Hypoplasia of the corpus callosum, Hypotelorism, High palate, Microcephal...	OMIM:616281
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Angelman Syndrome Due To A Point Mutation	Secondary microcephaly, Widely spaced teeth, Mandibular prognathia, Cessation of head growth, Pro...	ORPHA:411511
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Hypotelorism, Single transverse palmar crease, Slender finger, Bulbous nose, Arachn...	OMIM:615656
Polycystic Ovary Syndrome 1	Obesity, Enlarged polycystic ovaries	OMIM:184700
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Microcephaly, Absent...	OMIM:154400
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification, Macrocephaly, Limitation of joint mobility	ORPHA:99966
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis	ORPHA:79087
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Hypotelorism, Epiphyseal stippling, Bowing of the long bones, Coarse ...	ORPHA:1952
Seckel Syndrome 1	Clitoral hypertrophy, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated ...	OMIM:210600
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Dubowitz Syndrome	Abnormal female external genitalia morphology, Sandal gap, Broad thumb, Microcephaly, Wide mouth,...	ORPHA:235
Miller-Dieker Lissencephaly Syndrome	Midline brain calcifications, Microcephaly, Abnormal heart morphology, Recurrent aspiration pneum...	OMIM:247200
Distal Deletion 12Q	Ectopic kidney, Microcephaly, Proportionate tall stature, Pituitary adenoma, Aplasia/Hypoplasia o...	ORPHA:96149
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Loss of subcutaneous adi...	ORPHA:435651
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,...	OMIM:614963
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Hypoplasia of the corpus callosum, Macrocephaly, Patent ductus arteriosus, Flared metaphysis, Inc...	OMIM:620558
Li-Campeau Syndrome	Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Ventricular septal de...	OMIM:619189
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Microphthalmia, Proptosis, Short stature, Microcephaly, Micrognathia, Hypoplasi...	OMIM:616171
Apert Syndrome	Proptosis, Broad thumb, Bifid uvula, Ventriculomegaly, Narrow palate, Ovarian neoplasm, Aplasia/H...	ORPHA:87
Coffin-Lowry Syndrome	Short metacarpal, Everted lower lip vermilion, Microcephaly, Abnormal mitral valve morphology, Wi...	ORPHA:192
Hajdu-Cheney Syndrome	Dislocated radial head, Intestinal malrotation, Crowded carpal bones, Umbilical hernia, Joint hyp...	OMIM:102500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat...	OMIM:263200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Renal tubular acidosis, Myoglobinuria, Increased body weight, Osteo...	ORPHA:79240
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the philtrum, Abnormality of th...	ORPHA:3268
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Retrognathia, Abnormal heart morphology, Ventriculomegaly, Overlapping toe, Perimembra...	ORPHA:363444
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Microcephaly, Flexion contracture of finger, Intrauterine growth retardati...	ORPHA:464311
Slc35A2-Cdg	Transient nephrotic syndrome, Microcephaly, Abnormal heart morphology, Lateral ventricle dilatati...	ORPHA:356961
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Co...	ORPHA:370959
Craniofrontonasal Dysplasia	Sandal gap, Microcephaly, Joint hypermobility, Craniosynostosis, Hypospadias, Abnormality of the ...	ORPHA:1520
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Precocious puberty with Sertoli...	OMIM:175200
19P13.3 Microduplication Syndrome	Cerebral atrophy, Hip subluxation, Short philtrum, Narrow mouth, Intrauterine growth retardation,...	ORPHA:447980
19Q13.11 Microdeletion Syndrome	Retrognathia, Solitary median maxillary central incisor, Cachexia, Bifid scrotum, Microcephaly, W...	ORPHA:217346
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Juxtaductal coarc...	ORPHA:3310
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Hypoplasia of the corpus callosum, High, narrow palat...	ORPHA:444002
Gómez-López-Hernández Syndrome	Thin vermilion border, Hydrocephalus, Anteverted nares, Cerebellar vermis hypoplasia, Short statu...	ORPHA:1532
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Aplasia of the uterus, Femoral bowing, Death in infanc...	OMIM:274000
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Anosmia, Decreased serum testosterone concentration, Primary amenorrhea,...	OMIM:618841
Akt2-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Hepatomegaly, Hepatic steatosis, Lipodystrophy	ORPHA:79085
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus, Death in infancy, Cleft palate, Bifid uvula	OMIM:258320
Greig Cephalopolysyndactyly Syndrome	Macrocephaly, Craniosynostosis, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Bro...	ORPHA:380
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Microcephaly, Short distal phalanx of finger, Furrowed tongue, Short stature, Failure to thrive, ...	OMIM:300534
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Anteverted nares, Amelia, Decreased skull ossification, Intestina...	OMIM:601163
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl...	OMIM:619203
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Thin corpus callosum, Microcephaly, Colpocephaly, Intrauterine growth retardation, Ventriculomega...	OMIM:619833
Dpm1-Cdg	Cerebral atrophy, Secondary microcephaly, High, narrow palate, External genital hypoplasia, U-Sha...	ORPHA:79322
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Verheij Syndrome	Retrognathia, Optic nerve hypoplasia, Microcephaly, Joint hypermobility, Intrauterine growth reta...	OMIM:615583
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Proptosis, Shallow orbits, Microcephaly, Arachnodactyly, Mitral valve pro...	OMIM:182212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Death in childhood, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformati...	OMIM:613153
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Toe syndactyly, Obesity	ORPHA:217377
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Microcephaly, Severe short stature, Intraut...	OMIM:270450
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Jacobsen Syndrome	Death in infancy, Aortic valve stenosis, Intestinal malrotation, Abnormality of the anus, Intraut...	ORPHA:2308
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Microphthalmia, High palate, Microcephaly, Depressed nasal bridg...	OMIM:110100
10Q22.3Q23.3 Microdeletion Syndrome	Tricuspid valve prolapse, Atrioventricular canal defect, Hypotelorism, Macrocephaly, Intestinal p...	ORPHA:276413
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Agyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly	ORPHA:1084
Lissencephaly 3	Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasia, Polymicrogyria...	OMIM:611603
White-Kernohan Syndrome	Dysplastic corpus callosum, Short nose, Retrognathia, Hypotelorism, Hydroureter, Rectovaginal fis...	OMIM:619426
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Proptosis, Broad skull, Microcephaly, Short 5th finger, Long toe, Hypospadias...	ORPHA:163979
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Enlarged kidney, Tubulointerstitial fibrosis, Nephrocalcinosis, Epistaxis, Stage...	ORPHA:79259
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis...	OMIM:617967
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Everted lower lip vermilion, Abnormal heart morphology, Wide mouth, Long philtrum, ...	ORPHA:96092
Distal 22Q11.2 Microduplication Syndrome	Microcephaly, Long philtrum, Short philtrum, Hydrocephalus, Biparietal narrowing, Cryptorchidism,...	ORPHA:261337
Campomelic Dysplasia	Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, H...	OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Dental crowding, Relative macrocephaly, Wide mouth, Cardiomegaly, Joint hypermob...	OMIM:300967
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Microcephaly, Symphalangism affecting the phalanges of the hand, Hypogonadis...	ORPHA:2990
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Cerebellar ...	OMIM:614424
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Recurrent aspiration pneumonia, Lateral ventricle dilatation, Intrauterine growth r...	ORPHA:79243
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Failure to thrive, Per...	OMIM:608097
Van Maldergem Syndrome 2	Bifid scrotum, Subcortical band heterotopia, Joint hypermobility, Clinodactyly, Short 4th metacar...	OMIM:615546
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Wiedemann-Steiner Syndrome	Microcephaly, Contracture of the distal interphalangeal joint of the fingers, Intrauterine growth...	OMIM:605130
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Retinal coloboma, Obesity, Hypogonadism, Cryptorchidism	ORPHA:363741
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Ectopic kidney, Dislocated radial head, Proptosis, Microcephaly, Mal...	OMIM:122470
Monosomy 5P	Finger syndactyly, Abnormality of bone mineral density, Recurrent fractures, High palate, Short s...	ORPHA:281
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology, Overlapping toe, Hydrocephalus,...	ORPHA:401973
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Double Outlet Right Ventricle	Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Pulmonic stenosis...	ORPHA:3426
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac wing, Short ribs,...	OMIM:613330
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Macrocephaly, Dextrocardia, Short philtrum, High palate, Cryptorch...	OMIM:618929
Pseudohypoparathyroidism Type 1C	Cerebral calcification, Short metacarpal, Short 4th metacarpal, Decreased response to growth horm...	ORPHA:79444
Intellectual Developmental Disorder, X-Linked, Syndromic 13	High palate, Wrist flexion contracture, Microcephaly, Micrognathia, Obesity, Flexion contracture,...	OMIM:300055
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Postaxial polydactyly, Obesity, Hypogonadism	OMIM:615985
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Radial deviation of finger, Microphthalmia, Proptosis, Wrist flexion contra...	OMIM:268300
Lateral Meningocele Syndrome	Dental crowding, Short nasal bridge, Umbilical hernia, Long philtrum, Bicuspid aortic valve, Join...	OMIM:130720
Septo-Optic Dysplasia Spectrum	Maternal diabetes, Esophageal atresia, Diabetes insipidus, Hypoplasia of penis, Optic nerve hypop...	ORPHA:3157
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Overgrowth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Overgrowth, ...	ORPHA:352665
Sanjad-Sakati Syndrome	Intestinal obstruction, Congenital hypoparathyroidism, Hypoplasia of penis, Severe intrauterine g...	ORPHA:2323
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Clitoral hypertrophy, Microphthalmia, Everted lower lip vermilion, Microcephaly, Ve...	OMIM:616449
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Micro...	OMIM:193700
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Disproportionate short-limb short stature, Short long bone, Overgrowth, ...	OMIM:224410
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne...	ORPHA:435660
Pontocerebellar Hypoplasia, Type 7	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Single transverse palmar crea...	OMIM:614969
Acrocardiofacial Syndrome	Hypoplasia of penis, Proptosis, Death in infancy, Split foot, Intrauterine growth retardation, Hy...	ORPHA:2008
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Prominent fingertip pads, Microcephaly, Small scrotum, Cr...	OMIM:609625
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,...	OMIM:600705
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Bardet-Biedl Syndrome 1	Radial deviation of finger, Dental crowding, Syndactyly, Hypogonadism, Left ventricular hypertrop...	OMIM:209900
Microtriplication 11Q24.1	Genu valgum, Clinodactyly of the 5th finger, Wide nose, Short philtrum, Limitation of joint mobil...	ORPHA:289522
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb, Microcephaly, Lateral ventricle dilatation, Cerebell...	OMIM:304050
Maternal Phenylketonuria	Microcephaly, Abnormal heart morphology, Bifid distal phalanx of the thumb, Long philtrum, Intrau...	ORPHA:2209
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Cachexia, Abnormal ...	ORPHA:744
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Microcephaly, Intrauterine growth retardation,...	OMIM:300998
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Everted lower lip vermilion, Microcephaly, Arachnodactyly, Umbilical...	OMIM:613776
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Lipodystrophy	OMIM:615238
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Spindle-shaped finger, Genu valgum, Macrocep...	ORPHA:166024
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic...	OMIM:608836
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Prominent fingertip pads, Microdontia, Broad thumb, Microcephaly, Bifid uvula, Sh...	OMIM:612474
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Sandal gap, Repeated pneumothoraces, Dental crowding, Intestinal malrotation, Arachnod...	OMIM:617602
Beare-Stevenson Cutis Gyrata Syndrome	Proptosis, Bifid scrotum, Bifid uvula, Craniosynostosis, Ventriculomegaly, Overlapping toe, Narro...	OMIM:123790
Bardet-Biedl Syndrome 17	Polydactyly, Situs inversus totalis, Polyuria, Dextrocardia, Mesoaxial polydactyly, Hyposmia, Pos...	OMIM:615994
Histiocytoid Cardiomyopathy	Pulmonary edema, Microphthalmia, Hydrocephalus, Congenital aphakia, Renal cyst, Failure to thrive...	ORPHA:137675
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1606
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Short philtrum, Hydrocephalus, Mandibular prognathia, Everted lower l...	OMIM:601499
Femoral-Facial Syndrome	Long philtrum, Ventriculomegaly, Abnormal fibula morphology, Polycystic kidney dysplasia, Short s...	ORPHA:1988
Cornelia De Lange Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Proximal placement of thumb, Hypopla...	ORPHA:199
Cohen Syndrome	Delayed puberty, Childhood-onset truncal obesity, Short metacarpal, Microcephaly, Mitral valve pr...	OMIM:216550
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Long nose, Short nose, Orofacial cleft, Hypotelorism,...	ORPHA:261211
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Obesity, Nephrocalcinosis, Brachydactyly, Horizontal ribs...	OMIM:615633
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Intellectual Developmental Disorder, Autosomal Dominant 47	Cerebral atrophy, Cryptorchidism, Microcephaly, Widely-spaced incisors, Prominent nasal bridge, W...	OMIM:617635
Edinburgh Malformation Syndrome	Short nose, Thin vermilion border, Hydrocephalus, Anteverted nares, Narrow mouth, Choanal atresia...	ORPHA:1895
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Femoral bowing, Proptosis, Arachnodactyly, Fused labia minora, Long philtrum,...	OMIM:207410
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Palmoplantar cutis gyrata, Hydrocephalus, Anteverted nares, Bifid scrotum, Proptos...	ORPHA:1555
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormal palate morphology, Abnormality of the wrist, Abnormal shoulder mor...	ORPHA:1350
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb...	OMIM:184705
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal spermatogenesis, Non-obstructive azoospermia, Decreased testicular size, Globozoospermia...	ORPHA:399808
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Postnatal growth retardation, Short nose, Decreased response to growth hormone stimulation test, ...	OMIM:614732
H Syndrome	Delayed puberty, Enlarged kidney, Proptosis, Hypogonadism, Osteolysis, Azoospermia, Hydrocephalus...	ORPHA:168569
Chops Syndrome	Cervical C2/C3 vertebral fusion, Proptosis, Microcephaly, Long philtrum, Anteverted nares, Patent...	OMIM:616368
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Hypoplasia of the corpus callosum, Wide nose, Microlissencephaly, Patent fora...	ORPHA:89844
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ...	OMIM:612885
Hydranencephaly	Postnatal growth retardation, Stiff neck, Hypotelorism, Antenatal intracerebral hemorrhage, Optic...	ORPHA:2177
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Microcephaly, Cerebral cortical atrophy, Holoprosencephaly	ORPHA:2523
Distal 7Q11.23 Microduplication Syndrome	Aortic aneurysm, Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Cryptorchidism	ORPHA:261102
Branchiooculofacial Syndrome	Microphthalmia, Proximal placement of thumb, Microcephaly, Malrotation of colon, Ectopic thymus t...	OMIM:113620
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Cardiomyopathy, Microcephaly, Syndactyly, Clinodactyly, Abnormal car...	OMIM:217980
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Precocious ...	OMIM:619356
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Decreased body weight, Centr...	OMIM:617926
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hepatic steatosis	ORPHA:26792
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea,...	ORPHA:2795
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Joint hypermob...	ORPHA:1875
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hypospadias, Hydrocephalus, Adrenal hypoplasia, Decreased b...	OMIM:617053
Aromatase Deficiency	Osteopenia, Male infertility, Genu valgum, Tall stature, Delayed epiphyseal ossification, Macroor...	ORPHA:91
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Aniridia, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormal...	OMIM:194072
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Vitamin K Antagonist Embryofetopathy	Short nose, Epiphyseal stippling, Hydrocephalus, Anteverted nares, Proptosis, Choanal atresia, My...	ORPHA:1914
Fryns Syndrome	Rocker bottom foot, Microphthalmia, Ureteral duplication, Proximal placement of thumb, Meckel div...	OMIM:229850
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Short nose, Transposition of the great arteries, Hypo...	ORPHA:1913
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Three M Syndrome 1	Short ribs, Hypoplastic pelvis, Long philtrum, Joint hypermobility, Intrauterine growth retardati...	OMIM:273750
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Sifrim-Hitz-Weiss Syndrome	Flat acetabular roof, Bifid uvula, Ventriculomegaly, Short stature, Short femoral neck, Patent du...	OMIM:617159
Fryns Syndrome	Microphthalmia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Short distal...	ORPHA:2059
Chromosome 16Q22 Deletion Syndrome	Postnatal growth retardation, Hypospadias, Single transverse palmar crease, High palate, Cryptorc...	OMIM:614541
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Macrocephaly, Rhizomelia, Hypospadias, Anophthalmia, 2-3 toe syndactyly, Coloboma...	OMIM:615877
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Anemia, Increased mean corpuscular volum...	ORPHA:98870
Ddost-Cdg	Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, Li...	ORPHA:300536
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Broad thumb, Microcephaly, Bicuspid aortic valve, Short 5...	ORPHA:508498
Myopathy, Centronuclear, X-Linked	Macrocephaly, Slender toe, Hydrocephalus, Dandy-Walker malformation, High palate, Birth length gr...	OMIM:310400
Schwartz-Jampel Syndrome, Type 1	Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Anterior bowing of long ...	OMIM:255800
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Williams-Beuren Syndrome	Microdontia, Pulmonic stenosis, Early onset of sexual maturation, Nephrocalcinosis, Mitral valve ...	OMIM:194050
Webb-Dattani Syndrome	Hypoplasia of the corpus callosum, Retrognathia, Decreased response to growth hormone stimulation...	OMIM:615926
Basilicata-Akhtar Syndrome	Retrognathia, Ventriculomegaly, Single transverse palmar crease, Anteverted nares, Camptodactyly,...	OMIM:301032
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Thin corpus callosum, Extra-axial cerebrospinal fluid accumulation, Protruding tongue, Microcepha...	OMIM:619580
Amyotrophy, Hereditary Neuralgic	Hypotelorism, Long nasal bridge, Narrow mouth, Short stature, Cleft palate, Deeply set eye, Depre...	OMIM:162100
Ovarian Dysgenesis 10	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
Frank-Ter Haar Syndrome	Broad alveolar ridges, Short long bone, Proptosis, Wide mouth, Mitral valve prolapse, Anteverted ...	OMIM:249420
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Metaphyseal irregularity, Joint hypermobility, Central adrenal insufficiency, Lo...	OMIM:616007
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Flat acetabular roof, Limited knee extension, Joint hypermobility...	OMIM:618870
Pycnodysostosis	Cerebral dysmyelination, Disproportionate short-limb short stature, Hypoplastic iliac wing, Propt...	ORPHA:763
9Q21.13 Microdeletion Syndrome	Polydactyly, Postnatal growth retardation, Abnormal tongue morphology, Gray matter heterotopia, D...	ORPHA:531151
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Atrial septal defect, Hepatomeg...	OMIM:208540
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Gingival overgrowth, Abnormal intestine morphology, Abnormal pelvic girdle bone mo...	ORPHA:1834
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Hypotelorism, Proximal placement of t...	OMIM:602418
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert...	OMIM:202010
Ruvalcaba Syndrome	Delayed puberty, Short nose, Thin vermilion border, Clinodactyly of the 5th finger, Proximal plac...	ORPHA:3121
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Coloboma, Everted lower lip vermilion,...	OMIM:616789
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Pseudohypoparathyroi...	OMIM:612463
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Proptosis, Wrist flexion contracture, Intrauterine growth retardation, Long p...	OMIM:208150
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Microcephaly, Syndactyly, Umbilica...	OMIM:618164
Goldberg-Shprintzen Megacolon Syndrome	Hypoplasia of the corpus callosum, Aganglionic megacolon, Hypospadias, Finger syndactyly, Bifid s...	ORPHA:66629
Braddock Syndrome	Hypotelorism, Unilateral renal agenesis, Missing ribs, Short stature, Failure to thrive, Microgna...	ORPHA:52047
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:264470
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ...	ORPHA:261120
Cri-Du-Chat Syndrome	Short metacarpal, Microcephaly, Bifid uvula, Syndactyly, Hypospadias, Short philtrum, High axial ...	OMIM:123450
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Clinodactyly of the 5th finger, Dextrocardia, Cerebellar vermis hypoplasia, ...	OMIM:618067
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Obesity, Bulbous nose, Macroorchidism, Thick lower lip vermilion	OMIM:300238
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Coffin-Siris Syndrome	Wide nasal base, Microcephaly, Abnormal heart morphology, Wide mouth, Broad philtrum, Intrauterin...	ORPHA:1465
Hemochromatosis, Type 1	Hepatomegaly, Glucose intolerance, Azoospermia, Cardiomyopathy, Splenomegaly, Hypogonadotropic hy...	OMIM:235200
Shprintzen-Goldberg Syndrome	Retrognathia, Proptosis, Microcephaly, Arachnodactyly, Joint stiffness, Mitral valve prolapse, Um...	ORPHA:2462
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Relative macrocephaly, Severe intrauterine growth retardation, Microdontia, Abno...	ORPHA:96182
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele...	OMIM:614582
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity	ORPHA:329249
Glutathionuria	Glutathionuria, Urinary incontinence, Hypotelorism, Gray matter heterotopia, Agenesis of corpus c...	OMIM:231950
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Distal Duplication 5Q	Microcephaly, Absent thumb, Long philtrum, Craniosynostosis, Hypoplasia of the ulna, Hypoplasia o...	ORPHA:96097
Trisomy X	Premature ovarian insufficiency, Tall stature, Clinodactyly of the 5th finger, Secondary amenorrh...	ORPHA:3375
Gm1 Gangliosidosis	Cardiomyopathy, Joint stiffness, Abnormal heart morphology, Abnormal epiphysis morphology, Long p...	ORPHA:354
Ogden Syndrome	Postnatal growth retardation, Cerebral atrophy, High, narrow palate, Everted upper lip vermilion,...	ORPHA:276432
Summitt Syndrome	Short 4th metacarpal, Tall stature, Genu valgum, Clinodactyly of the 5th finger, Macrocephaly, Wi...	ORPHA:3210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Relative macrocephaly, Proptosis, Hypoplastic ilia, Short ribs, Microme...	OMIM:617895
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Abnormality of the endocrine system, Premature thelar...	ORPHA:268261
Masa Syndrome	Macrocephaly, Hydrocephalus, Short stature, Microcephaly, Agenesis of corpus callosum, Adducted t...	OMIM:303350
Cortisone Reductase Deficiency 1	Precocious puberty, Oligomenorrhea, Obesity, Infertility	OMIM:604931
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Wide nose, Anteverted nares, Short metacarpal, Short fourth metatarsal, Hyp...	OMIM:600430
Terminal Osseous Dysplasia	Mesomelic arm shortening, Multiple joint contractures, Abnormal hand bone ossification, Abnormal ...	OMIM:300244
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Wide nose, Interrupted aortic arch, Depressed nasal ridge, G...	ORPHA:1727
Frasier Syndrome	Ambiguous genitalia, male, Focal segmental glomerulosclerosis, Hypergonadotropic hypogonadism, Ma...	ORPHA:347
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Tall stature, Dental crowding, Broad thumb, Arachnodactyly, Disproportionate tall stat...	OMIM:309520
15Q11Q13 Microduplication Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Joint hypermobility	ORPHA:238446
Norrie Disease	Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Cachexia, ...	ORPHA:649
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Intrauterine growth retardation, Short distal pha...	ORPHA:289
Intellectual Developmental Disorder, X-Linked 30	Short nose, Hydrocephalus, Anteverted nares, Prominent fingertip pads, High palate, Short stature...	OMIM:300558
Scalp-Ear-Nipple Syndrome	Broad thumb, Bifid uvula, Lateral ventricle dilatation, Anteverted nares, Short stature, Depresse...	OMIM:181270
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macrocephaly, Hypospadias, Polymicrogyria, Bilateral cleft palate, Bifid nasal tip, High palate, ...	OMIM:618874
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Thin corpus callosum, Hypotelorism, Hypophosphatemic rickets, Sin...	OMIM:619743
Woodhouse-Sakati Syndrome	Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline...	ORPHA:3464
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Cerebral calcification, Short metacarpal, Short 4th metacarpal, Dec...	ORPHA:79443
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Zellweger Syndrome	Clitoral hypertrophy, Macrocephaly, Hypospadias, Epiphyseal stippling, Polymicrogyria, Ventricula...	ORPHA:912
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Ventricular septal defect, Open mouth, Lateral ventricle dilat...	OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Microceph...	OMIM:236670
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Osteopenia, Death in childhood, Hydrocephalus, Anteverted nares, Gingival overg...	OMIM:269920
King-Denborough Syndrome	Low hanging columella, Ventricular septal defect, High palate, Bilateral cryptorchidism, Short st...	OMIM:619542
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Sponastrime Dysplasia	Dilatation of the cerebral artery, Disproportionate short-limb short stature, Short long bone, Re...	ORPHA:93357
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Short nose, Abnormal palate morphology, Clinodactyly ...	ORPHA:1786
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventriculomegaly, Alveolar ridge overgrowth, Pancreatic lymphangiectasis, Postaxial hand polydact...	ORPHA:1655
Joubert Syndrome 2	Microphthalmia, Macrocephaly, Nephronophthisis, Encephalocele, Renal insufficiency, Hydrocephalus...	OMIM:608091
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Hypoplasia of the corpus callosum, High, narrow palate, Macrocephaly, Clinodactyly of the 5th fin...	ORPHA:369950
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Holoprosencephaly-Craniosynostosis Syndrome	Hypotelorism, Clinodactyly of the 5th finger, Short stature, Microcephaly, Hypoplastic vertebral ...	ORPHA:2163
Donnai-Barrow Syndrome	Short nose, Macrocephaly, Ventricular septal defect, Proptosis, Bicornuate uterus, Intestinal mal...	ORPHA:2143
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Anteverted nares, High palate, Micromelia, Short stature, Arachnodactyly...	ORPHA:1035
Crane-Heise Syndrome	Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of penis, Finger syndactyly, Anteverted nar...	ORPHA:1512
Silver-Russell Syndrome 3	Postnatal growth retardation, Retrognathia, Penoscrotal hypospadias, Clinodactyly of the 5th fing...	OMIM:616489
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Secondary microcephaly, Widely spaced teeth, Mandibular prognathia, Cessation of head growth, Pro...	ORPHA:98795
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Long philtrum, Tricuspid valve prolapse, High, narrow palate, Aniridia, Anophthalmia, Mandibular ...	ORPHA:1101
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Monosomy 9Q22.3	Polydactyly, Short nose, Microphthalmia, Large for gestational age, Macrocephaly, Palmar pits, Ta...	ORPHA:77301
Marbach-Schaaf Neurodevelopmental Syndrome	Hypotelorism, Enuresis nocturna, Microcephaly, Obesity, Downturned corners of mouth, Broad nasal ...	OMIM:619680
Morm Syndrome	Truncal obesity	ORPHA:75858
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Microphthalmia, Ectopic kidney, Ventricular septal defect, Death in infan...	OMIM:613730
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ...	OMIM:218330
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
German Syndrome	Orofacial cleft, Limitation of joint mobility, High palate, Everted lower lip vermilion, Arthrogr...	ORPHA:2077
Orofaciodigital Syndrome Vi	Radial deviation of finger, Hypothalamic hamartoma, Tibial bowing, Accessory oral frenulum, Tongu...	OMIM:277170
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Death in childhood, High p...	OMIM:618651
Aymé-Gripp Syndrome	Rocker bottom foot, Shallow orbits, Pericarditis, Long philtrum, Ventriculomegaly, Craniosynostos...	ORPHA:1272
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Delayed puberty, Osteopenia, Hyposmia, Ectrodactyly, Anosmia, Choanal atresia, Short stature, Too...	OMIM:147950
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Short ribs, Ventriculomegaly, Accessory oral frenulum, Aplastic clavicle, Hydrocepha...	OMIM:616546
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Oligomenorrhea, Long fingers, Broad...	OMIM:620393
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Delayed puberty, Small pituitary gland, Short stature, Carious teeth, Microcephaly, Ulnar deviati...	OMIM:612079
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Wide mouth, Ventriculomegaly, Encephalocele, Meningocele, Aplasia/Hypoplasia of ...	ORPHA:1827
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Elevated circulating alanine a...	OMIM:278000
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Adams-Oliver Syndrome 2	Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ...	OMIM:614219
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections, Abnormality of the temporomandibular j...	ORPHA:258
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Microcephaly, Epistaxis, Wide mouth, Mild fetal ventriculomegaly, Intraute...	OMIM:619841
3M Syndrome	Rocker bottom foot, Everted lower lip vermilion, Hypoplastic pelvis, Hypoplastic ischia, Abnormal...	ORPHA:2616
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Tall stature, Macrocephaly, Sandal gap, Tapered finger, Short foot, Everted lower lip vermilion, ...	OMIM:618089
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Dental crowding, Umbilical hernia, Joint hypermobility, Hydrocephalus, Dandy-...	OMIM:612582
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Short long bone, Tooth agenesis, Joint hypermobility, Coxa valga, Small epiphyses, Short stature,...	OMIM:618363
Narcolepsy Type 1	Precocious puberty, Male sexual dysfunction, Obesity, Nocturia, Female sexual dysfunction	ORPHA:2073
Macrocephaly/Autism Syndrome	Short nose, Large for gestational age, Postnatal macrocephaly, Dilation of Virchow-Robin spaces, ...	OMIM:605309
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, Proptosis, Hi...	OMIM:619736
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Abnormal mitral valve m...	ORPHA:1277
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Rajab Interstitial Lung Disease With Brain Calcifications 1	Reduced bone mineral density, Cerebral calcification, Microcephaly, Intestinal malrotation, Small...	OMIM:613658
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Solitary median maxillary central incisor, Bifid scrotum, Microcephaly, Intrauterin...	OMIM:613026
Bardet-Biedl Syndrome 21	Obesity, Overweight, Elevated circulating hepatic transaminase concentration	OMIM:617406
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Microcephaly, Abnormality of neuronal migration, Intrauterine growth reta...	ORPHA:1980
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Proptosis, Microdontia, Overlapping toe, Cli...	ORPHA:221120
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue, Abnormal heart morphology, Cherry red spot of the macula,...	ORPHA:93399
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Proptosis, Microdontia, Generalized oste...	OMIM:245600
Peutz-Jeghers Syndrome	Abnormality of the nose, Intestinal obstruction, Esophageal neoplasm, Rectal prolapse, Neoplasm o...	ORPHA:2869
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Hypospadias, Finger syndactyly, Single transverse palmar crease, Sever...	ORPHA:435938
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Arachnodactyly, Microcephaly, Intrauterine growth retardation, Ventriculom...	ORPHA:464306
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Clitoral hypertrophy, Hyperinsulinemia, Ventricular septal hypertrophy, Tall...	OMIM:269700
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar...	ORPHA:93329
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Reduced ...	ORPHA:363400
Warburg Micro Syndrome 3	Postnatal growth retardation, Short nose, Microphthalmia, Hypoplasia of the corpus callosum, Clin...	OMIM:614222
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, Hyposmia, High palate, Anosmia, Primary amenorrhea, Cleft...	OMIM:612702
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r...	OMIM:609945
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Increased serum testosterone level, Hemorrhagic ovarian cyst, Pleural effusion, ...	ORPHA:64739
Immunodeficiency 61	Obesity	OMIM:300310
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Hypoplasia of penis, Bone cyst, Non-midline cleft of the upp...	ORPHA:1752
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Abnormal fibula morphology, Narrow palate, Abnormal femur morphology, Abn...	ORPHA:2063
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Tracheo...	ORPHA:887
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Hypospadia...	OMIM:180860
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia...	ORPHA:2491
2Q24 Microdeletion Syndrome	Microphthalmia, Short philtrum, Coloboma, Bullet-shaped distal phalanx of the hallux, Camptodacty...	ORPHA:1617
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo...	OMIM:620438
Anencephaly 2	Anencephaly, Anophthalmia, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Media...	OMIM:619452
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb...	ORPHA:1825
Complete Androgen Insensitivity Syndrome	Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma...	ORPHA:99429
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Trident hand, Short nasal br...	ORPHA:15
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hypoplasia of the corpus callosum, Secondary microcephaly, Macrocephaly, Hydrocephalus, Reduced c...	OMIM:618174
Momo Syndrome	Tall stature, Abnormal bone ossification, Wide nasal base, Femoral bowing, Overgrowth, Long philt...	ORPHA:2563
Alagille Syndrome	Delayed puberty, Hypoplasia of the ulna, Long nose, Clinodactyly of the 5th finger, Spina bifida ...	ORPHA:52
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia,...	ORPHA:163961
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Agenesis of corpus callosum	OMIM:166990
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Genu valgum, Nephronophthisis, Cone-shaped epiphyses of the phalanges of the han...	OMIM:615630
Non-Syndromic Metopic Craniosynostosis	Hypotelorism, Wide nasal bridge	ORPHA:3366
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Microphthalmia, Macrocephaly, Rhizomelia, 11 pairs of ribs, Hydrocephalus, Hypoplasti...	OMIM:300863
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Genu valgum, Small pituitary gland, Anosmia, Osteoporosis, Decreased testicular size,...	OMIM:614880
Kleefstra Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Large for gestational age, Thick lower lip vermilion, Cerebell...	ORPHA:261652
Rubinstein-Taybi Syndrome	Convex nasal ridge, Clinodactyly of the 5th finger, Microcephaly, Joint hypermobility, Finger syn...	ORPHA:783
Seckel Syndrome 9	Convex nasal ridge, Clitoral hypertrophy, Recurrent respiratory infections, Ventriculomegaly, Pul...	OMIM:616777
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Abnormality of the dentition, Gingivitis, Periodontitis	ORPHA:1008
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, ...	ORPHA:452
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Thin ribs, Decreas...	OMIM:602361
14Q11.2 Microduplication Syndrome	Exaggerated cupid's bow, Hypothyroidism, Microcephaly, Micrognathia, Obesity, Hypertelorism, Wide...	ORPHA:261229
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Broad ...	ORPHA:353281
Mulibrey Nanism	Dental crowding, Hypoplastic frontal sinuses, Intrauterine growth retardation, Cardiomegaly, Vent...	OMIM:253250
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Relative macrocephaly, Severe intrauterine growth retardation, Pulmonic stenosis, C...	ORPHA:3455
Treacher-Collins Syndrome	Retrognathia, Microphthalmia, Hypoplasia of penis, Thyroid hypoplasia, Glossoptosis, Tracheoesoph...	ORPHA:861
Joubert Syndrome	Situs inversus totalis, Orofacial cleft, Aganglionic megacolon, Encephalocele, Hydrocephalus, Pol...	ORPHA:475
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Microcephaly, Perisylvian polymicrogyria, Long philtrum, Short 5th finger, Short philtrum, Anteve...	OMIM:618443
Autosomal Dominant Spondylocostal Dysostosis	Macrocephaly, Spina bifida occulta, Anteverted nares, Abnormal rib morphology, Abnormal morpholog...	ORPHA:1797
Roberts Syndrome	Bilateral single transverse palmar creases, Clitoral hypertrophy, Radial deviation of finger, Mes...	ORPHA:3103
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Finger syndactyly, Limitation of joint mobility, Abnorma...	ORPHA:178303
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Proptosis, Severe short stature, Umbilical hernia, Long philtr...	ORPHA:3107
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Tall stature, Enlarged kidney, Short greater sciatic notch, Meckel ...	OMIM:312870
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Cardiofaciocutaneous Syndrome	Pulmonic stenosis, Long philtrum, Deep palmar crease, Hydrocephalus, Anteverted nares, Biparietal...	ORPHA:1340
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Microphthalmia, Rhizomelia, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Th...	ORPHA:163966
ERI1-related disease	Dislocated radial head, Oligodactyly, Proptosis, Abnormal heart morphology, Syndactyly, Slender m...	OMIM:608739
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Optic Pathway Glioma	Precocious puberty, Proptosis, Hydrocephalus, Growth delay	ORPHA:2086
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Cerebral atrophy, Hypoplasia of the corpus callosum, Short stature, Microcephaly, Obesity, Talipe...	OMIM:616756
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Bilateral single transverse palmar creases, Cubitus valgus, Short philtrum, High palate, Short st...	ORPHA:85280
Thanatophoric Dysplasia Type 1	Short greater sciatic notch, Femoral bowing, Proptosis, Joint stiffness, Ventriculomegaly, Lethal...	ORPHA:1860
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus, Short stature, Preaxial hand polydactyly, Iri...	OMIM:210350
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Dental crowding, Bifid scrotum, Pulmonic stenosis, Aortic v...	ORPHA:261537
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Microcephaly, Failure to thrive, Hypotelorism, Hypoplasia of the corpus callosum	ORPHA:477673
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebral calcification, Microcephaly, Ventriculomegaly, Primary microcephaly, Coronary artery fis...	OMIM:620024
Orofaciodigital Syndrome Ii	Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, H...	OMIM:252100
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal heart morphology, Nephrocalcinosis, Joint hypermobility, Craniosynostosis, Long philtrum...	ORPHA:369837
Mesoaxial Hexadactyly And Cardiac Malformation	External genital hypoplasia, Everted lower lip vermilion, Pulmonic stenosis, Short stature, Hand ...	OMIM:249670
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Reduced bone mineral density, Ectopic kidney, Arterial dissection,...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Ectopic kidney, Arterial dissection,...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Ectopic kidney, Arterial dissection,...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Reduced bone mineral density, Ectopic kidney, Arterial dissection,...	ORPHA:881
White-Sutton Syndrome	Thin corpus callosum, Optic nerve hypoplasia, Broad thumb, Microcephaly, Bifid uvula, Intrauterin...	OMIM:616364
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss of subcutaneous adipo...	OMIM:615381
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, N...	OMIM:617303
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Urinary incontinence, Cerebral white matter ...	ORPHA:464282
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Hyperinsulinemia, Tall stature, Cystic angiomatosis of bone, Decreased seru...	OMIM:608594
Adnp Syndrome	Urinary incontinence, Focal white matter lesions, Sandal gap, Abnormal finger morphology, Broad t...	ORPHA:404448
Van Maldergem Syndrome 1	Subcortical band heterotopia, Joint hypermobility, Clinodactyly, Short 4th metacarpal, Hypospadia...	OMIM:601390
Premature Ovarian Failure 21	Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Isolated Exencephaly	Maternal diabetes, Abnormal facial skeleton morphology, Anterior pituitary hypoplasia, Hypoplasia...	ORPHA:563612
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Chronic bronchitis, Reduced sperm motility, Coiled sperm ...	OMIM:620356
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Umb...	OMIM:304120
Insulin-Resistance Syndrome Type B	Increased body weight, Fasting hyperinsulinemia, Hyperinsulinemia, Increased serum testosterone l...	ORPHA:2298
16Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Solitary median maxillary central incisor, Proximal placement ...	ORPHA:261250
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth retardation, ...	ORPHA:2886
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Low hanging columella, Vaginal fistula, Coloboma, Unilateral microphtha...	OMIM:619318
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Orofacial cleft, Microphthalmia, Iris coloboma, Hypoplasia of penis, ...	ORPHA:2328
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Failure to thrive, Tetralogy of Fallot, Double outlet right ventricle, Ventric...	OMIM:601127
Microphthalmia, Isolated 4	Postaxial polydactyly, Coloboma, Microphthalmia, Absent testis	OMIM:613094
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Beaulieu-Boycott-Innes Syndrome	Long nose, Premature ovarian insufficiency, Unilateral renal agenesis, Dental malocclusion, Endom...	OMIM:613680
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Carpenter Syndrome 2	Retrognathia, Broad thumb, Umbilical hernia, Long philtrum, Craniosynostosis, Narrow palate, Tran...	OMIM:614976
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Sh...	OMIM:618845
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Hepatic steatosis	OMIM:606069
Dentici-Novelli Neurodevelopmental Syndrome	Thin corpus callosum, Widely spaced teeth, Precocious puberty, Microcephaly, Prominent nasal brid...	OMIM:619877
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Orofacial cleft, Hydrocephalus, T...	ORPHA:324416
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Widely spaced teeth, Hydrocephalus, Dandy-Walker malf...	ORPHA:459061
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Microcephaly, Downturned corners of mouth, Hypotelorism	OMIM:618718
Pagod Syndrome	Death in infancy, Microcephaly, Encephalocele, Meningocele, Female pseudohermaphroditism, Short s...	ORPHA:991
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of co...	OMIM:619301
Congenital Disorder Of Glycosylation, Type Iif	Hypotelorism, Short philtrum, Microcephaly, Proteinuria, Aminoaciduria, Deeply set eye, Pulmonary...	OMIM:603585
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Tall stature, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Joint stiffness, Holoprosencephaly, Agenesis of corpus callos...	ORPHA:2182
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of ...	OMIM:614078
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Hypoplastic pelvis, Microcephaly, Hypogonadism, Intra...	OMIM:216400
Monosomy 13Q14	Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl...	ORPHA:1587
Gapo Syndrome	Decreased skull ossification, Everted lower lip vermilion, Hypogonadism, Umbilical hernia, Joint ...	ORPHA:2067
Meckel Syndrome, Type 9	Occipital encephalocele, Limb undergrowth, Ambiguous genitalia, Multicystic kidney dysplasia, Tal...	OMIM:614209
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia of the uterus, Aplasia/Hypoplasia involving the pelvis, Tracheoesoph...	ORPHA:2879
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Death in infancy, Simplified gyral pattern, Agenesis of corpus callosum, Cerebella...	OMIM:619302
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent th...	OMIM:263650
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Bicuspid aor...	OMIM:610759
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro...	OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the corpus callosum, Retrognathia, Postnatal macrocephaly, Low hanging columella, H...	OMIM:620157
3P25.3 Microdeletion Syndrome	Microphthalmia, Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Overlapping toe, Sho...	ORPHA:435638
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Focal white matter lesions, Dental crowding, Gingival overg...	ORPHA:2152
Giacheti Syndrome	Tall stature, Hypotelorism	OMIM:612917
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Trichothiodystrophy 8, Nonphotosensitive	Retrognathia, Long philtrum, Hypotelorism, Prominent nose, Thin upper lip vermilion	OMIM:619691
Joubert Syndrome With Ocular Defect	Orofacial cleft, Aganglionic megacolon, Dextrocardia, Encephalocele, Hydrocephalus, Polymicrogyri...	ORPHA:220493
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Short philtrum, Single transverse palmar crease, 2-3 ...	OMIM:613443
Mend Syndrome	Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Bulbous n...	OMIM:300960
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ...	OMIM:261740
De Barsy Syndrome	Progressive microcephaly, Umbilical hernia, Intrauterine growth retardation, Adducted thumb, Smal...	ORPHA:2962
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hamamy Syndrome	Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, A...	OMIM:611174
Sub-Cortical Nodular Heterotopia	Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Abnormality...	ORPHA:101029
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Proximal tubulopathy, Death in infancy, Microcephaly, Intrauterine growth retardati...	OMIM:614576
Seckel Syndrome 2	Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Ectopic kidney, Microdontia, Short s...	OMIM:606744
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Cor pulmonale	OMIM:261800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hypoplasia of the corpus callosum, Megalencephaly, Rhizomelia, Macrocephaly, Urinary incontinence...	OMIM:616482
Acrofrontofacionasal Dysostosis 2	Hypospadias, Wide nose, Proptosis, Bifid scrotum, High palate, Broad thumb, Short stature, Hand p...	OMIM:239710
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Proptosis, Death in infancy, Ventriculomegaly, Alveolar ridge overgrowth, Pancreatic lymphangiect...	OMIM:235255
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Long philtrum, Sandal gap, Wide nose, Aortic aneurysm, Joint hypermobility, Patent foramen ovale,...	ORPHA:477817
Orofaciodigital Syndrome V	Sandal gap, Microcephaly, Bifid uvula, Aganglionic megacolon, Postaxial hand polydactyly, Cleft p...	OMIM:174300
Partial Androgen Insensitivity Syndrome	Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u...	ORPHA:90797
Intellectual Developmental Disorder, Autosomal Dominant 39	Cerebral atrophy, Thin corpus callosum, Wide nasal base, Hydrocephalus, Bilateral talipes equinov...	OMIM:616521
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Pectoralis hypoplasia, Glossoptosis, Microcephaly, Ventriculomegaly, Abnormal cardi...	OMIM:254940
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Encephalocele, Hydrocephalus, Anteverted nares, Cerebellar vermis hypoplas...	ORPHA:2318
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Thin vermilion border, Macrocephaly, Horseshoe kidney, 2-3 toe syndactyly, Increased body weight,...	OMIM:300860
Developmental And Epileptic Encephalopathy 89	Cerebral atrophy, Hypoplasia of the corpus callosum, Clitoral hypertrophy, Death in childhood, Ma...	OMIM:619124
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, Absent radi...	ORPHA:3320
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph...	ORPHA:3246
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Periventricular white matter hyperintensities, Hydrocephalus, Elbow flexion contracture, Microcep...	OMIM:619470
Premature Ovarian Failure 8	Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm...	OMIM:615723
Fraser-Like Syndrome	Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Czeizel-Losonci Syndrome	Tracheoesophageal fistula, Myelomeningocele, Split foot, 1-2 finger syndactyly, Ureteral agenesis...	ORPHA:2437
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Macrocephaly, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wid...	ORPHA:2429
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Kabuki Syndrome 1	Prominent fingertip pads, Premature thelarche, Microcephaly, Intestinal malrotation, Recurrent as...	OMIM:147920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Hepatomegaly	OMIM:604273
Donnai-Barrow Syndrome	Short nose, Macrocephaly, Ventricular septal defect, Proptosis, Bicornuate uterus, Hypoplasia of ...	OMIM:222448
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Abnormal oral frenulum morphology, Abnormality of the...	ORPHA:96167
6Q Terminal Deletion Syndrome	Colpocephaly, Broad philtrum, Joint hypermobility, Clinodactyly, Hypospadias, Polymicrogyria, Phi...	ORPHA:75857
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res...	OMIM:618223
Marden-Walker Syndrome	Retrognathia, Microcephaly, Arachnodactyly, Joint stiffness, Bifid uvula, Severe short stature, I...	ORPHA:2461
Houge-Janssens Syndrome 2	Hypoplasia of the corpus callosum, Unilateral renal agenesis, Hydrocephalus, Anteverted nares, Po...	OMIM:616362
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Yellow-brown discoloration of the teeth, Death in adolescence, Microcephaly, Lateral ...	OMIM:619229
Lead Poisoning	Delayed puberty, Cranial hyperostosis, Delayed eruption of teeth, Decreased male libido, Miscarri...	ORPHA:330015
Senior-Loken Syndrome 9	Polydactyly, Osteopenia, Nephronophthisis, Hypoplasia of the femoral head, Obesity, Hypogonadism,...	OMIM:616629
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Fanconi Anemia, Complementation Group L	Microphthalmia, Hypoplastic sacrum, Aplasia of the uterus, Tracheoesophageal fistula, Absent thum...	OMIM:614083
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Fliedner-Zweier Syndrome	Hypoplasia of the corpus callosum, Long philtrum, Unilateral renal agenesis, Hypoplastic aortic a...	OMIM:620511
Chromosome 16P13.3 Deletion Syndrome, Proximal	Clinodactyly of the 5th finger, Low hanging columella, High palate, Death in infancy, Broad thumb...	OMIM:610543
Congenital Disorder Of Deglycosylation 2	Thin corpus callosum, Macrocephaly, Hamartoma of tongue, Sandal gap, Cerebellar vermis hypoplasia...	OMIM:619775
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Megalencephaly, Macrocephaly, Aganglionic megacolon, Short philtrum, Hydrocephalus, I...	OMIM:613603
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Proptosis, Glossoptosis, Microcephaly, Abnormal heart morphology...	ORPHA:444077
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency, Subperiosteal bone formation, Osteoscle...	OMIM:609993
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele	ORPHA:588
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Lambert Syndrome	Hypospadias, Branchial anomaly, Wide mouth, Malar flattening, Intrauterine growth retardation, Fa...	ORPHA:1296
Pallister-Killian Syndrome	Aplasia of the uterus, Proptosis, Relative macrocephaly, Everted lower lip vermilion, Aortic valv...	OMIM:601803
Premature Ovarian Failure 5	Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar...	OMIM:611548
Acrofrontofacionasal Dysostosis	Hypospadias, Dimple on nasal tip, Non-midline cleft of the upper lip, Bifid scrotum, High palate,...	ORPHA:1784
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Hypoplastic pel...	ORPHA:750
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Everted lower lip vermilion, Microdon...	ORPHA:261318
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Genu valgum, Megalencephaly, Macrocephaly, Calcium oxalate nephrolithiasis, Hydrocephalus, Mandib...	OMIM:248000
Cerebellar-Facial-Dental Syndrome	Inferior cerebellar vermis hypoplasia, Microcephaly, Severe short stature, Mitral valve prolapse,...	ORPHA:444072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Bifid scrotum, Proptosis, Microcephaly, Broad philtrum, Bicuspid aortic valve, I...	OMIM:619475
Crouzon Syndrome	Deviated nasal septum, Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding, Mandibular pr...	OMIM:123500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia	OMIM:600649
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Dandy-Walker Malformation With Postaxial Polydactyly	Macrocephaly, Vascular dilatation, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polyd...	OMIM:220220
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Short nose, Retrognathia, Macrocephaly, Short philtrum, Hypodontia, Proptosis, Tap...	OMIM:620250
Coccidioidomycosis	Abnormality of the endocrine system, Broad skull, Broad metatarsal, Pericarditis, Osteolysis, Bro...	ORPHA:228123
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Everted lower lip vermilion, Umbilical hernia, Broad ribs, Hip dislocation, Cleft palate, Bifid n...	OMIM:301066
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Craniosynostosis, Herrmann-Opitz Type	Short nose, Craniosynostosis, Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia,...	ORPHA:2145
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Macrocephaly, Arteriovenous malformation, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Finger...	ORPHA:60040
Myhre Syndrome	Gingival cleft, Large iliac wing, Joint stiffness, Bifid uvula, Severe short stature, Unilateral ...	ORPHA:2588
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr...	OMIM:603471
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
8P23.1 Duplication Syndrome	Wide nose, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Thick vermilion border, Long p...	ORPHA:251076
Spinal Muscular Atrophy With Mental Retardation	Microcephaly, Syndactyly	OMIM:271109
Chromosome 9P Deletion Syndrome	Clinodactyly of the 5th toe, Retrognathia, Sandal gap, Long philtrum, Long toe, Narrow palate, Pe...	OMIM:158170
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Narrow nasal ridge, Ureteral agenesis, Anteverted nares, Cerebellar hypoplasia, Bulbous nose, Hyp...	OMIM:236500
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:88630
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Dislocated radial head, Progressive microcephaly, Clubbing, Proptosis, Join...	OMIM:617063
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Short philtrum, Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Arachnodactyly, D...	OMIM:301039
Dystonia 28	Globus pallidus hypointensity on susceptibility-weighted imaging, Clinodactyly of the 5th finger,...	ORPHA:589618
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Tracheobronchomalac...	OMIM:616462
Warburg Micro Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th toe, Microphthalmia, Short nose, Hypoplasia...	OMIM:614225
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Gracile Syndrome	Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis	ORPHA:53693
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Dental crowding, Bifid scrotum, Pulmonic stenosis, Aortic v...	ORPHA:261552
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Short metac...	OMIM:215140
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Arachnodactyly, Paranasal si...	OMIM:300373
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Microcephaly-Micromelia Syndrome	Microphthalmia, Oligodactyly, Microcephaly, Absent thumb, Absent radius, Craniosynostosis, Intrau...	OMIM:251230
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism, Short stature	OMIM:275120
Xq12-Q13.3 Duplication Syndrome	Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, 2-3 toe syndactyl...	ORPHA:314389
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetab...	OMIM:256050
Joubert Syndrome With Renal Defect	Orofacial cleft, Aganglionic megacolon, Encephalocele, Hydrocephalus, Polymicrogyria, Anteverted ...	ORPHA:220497
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Fasting hypoglycemia, Nephro...	OMIM:232200
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Wrist flexion contracture, Abnormally ossified vertebrae, D...	ORPHA:800
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome...	ORPHA:79303
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly, Cardiomegaly, Failure to thr...	ORPHA:858
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Sandal gap, Short philtrum, Short stature, Microcephaly, Prominent nasal br...	OMIM:618885
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan...	OMIM:273250
Catel-Manzke Syndrome	Low insertion of columella, Proptosis, Short metacarpal, Glossoptosis, Ulnar deviation of the 2nd...	OMIM:616145
Spondyloepimetaphyseal Dysplasia, Krakow Type	Metaphyseal irregularity, Annular pancreas, Delayed pubic bone ossification, Rhizomelia, Irregula...	OMIM:618162
Hyperlysinemia	Increased CSF lysine concentration, Argininuria, Hypotelorism, Abnormal CSF ornithine concentrati...	ORPHA:2203
15Q Overgrowth Syndrome	Retrognathia, Dental crowding, Abnormality of the incisor, Overgrowth, Abnormal coccyx morphology...	ORPHA:314585
2,4-Dienoyl-Coa Reductase Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Increased CSF lysine concentration, Death in...	OMIM:616034
Isolated Sedoheptulokinase Deficiency	Abnormality of globe location, Steatorrhea, Macrocephaly, Hypotelorism, Severe postnatal growth r...	ORPHA:440713
Cockayne Syndrome B	Square pelvis bone, Microphthalmia, Hypoplastic iliac wing, Hypoplastic pelvis, Microcephaly, Sev...	OMIM:133540
Chromosome 8Q21.11 Deletion Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Short philtrum, Exaggerated cupid's bow, High ...	OMIM:614230
Microcephaly-Capillary Malformation Syndrome	Progressive microcephaly, Short distal phalanx of finger, Clinodactyly, Patent foramen ovale, Sho...	OMIM:614261
Leprechaunism	Enlarged kidney, Hyperinsulinemia, Clitoral hypertrophy, Hepatomegaly, Fasting hypoglycemia, Long...	ORPHA:508
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Shallow orbits, Ureteral stenosis, Abnormal nasopharynx morphology, Short distal p...	OMIM:269150
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Thin corpus callosum, Beta-alaninuria, Microcephaly, Lateral ventricle dilatation...	OMIM:614105
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger...	OMIM:602782
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia, Asplenia	OMIM:618948
Alström Syndrome	Urinary incontinence, Precocious puberty in females, Chronic kidney disease, Primary hypothyroidi...	ORPHA:64
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Ventricular septal defect, Downturned corners of mouth, Short stature, ...	ORPHA:457193
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Cort...	OMIM:613001
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
17Q24.2 Microdeletion Syndrome	Abnormality of the wrist, Cubitus valgus, Patent ductus arteriosus after birth at term, Short phi...	ORPHA:529962
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Hypoplasia of the corpus callosum, Osteopenia, External genital hypoplasia, Pathologic fracture, ...	OMIM:614231
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hypoplasia of the corpus callosum, Orofacial cleft, Cortical dysplasia, Precocious puberty, Micro...	ORPHA:457260
Fragile X Syndrome	Macrocephaly, Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Macroorchi...	OMIM:300624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Short stature, Obesity, Macroorchidism, Stroke	ORPHA:3077
Frontorhiny	Microphthalmia, Finger clinodactyly, Encephalocele, Diabetes insipidus, Pericallosal lipoma, Midl...	ORPHA:391474
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hypoplasia of the corpus callosum, Arteria lusoria, Hyposmia, Pelvic kidney, Patent foramen ovale...	OMIM:618653
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Anteverted nares, Membranous subvalvu...	ORPHA:3191
Rabin-Pappas Syndrome	Hypoplasia of the corpus callosum, Retrognathia, Postnatal macrocephaly, Low hanging columella, H...	OMIM:620155
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Everted lower lip vermilion, Microcephaly, Short distal phalanx of finger, Ventriculomegaly, Shor...	OMIM:220500
Renal And Mullerian Duct Hypoplasia	Short nose, Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced uret...	OMIM:266810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the corpus callosum, Microphthalmia, Focal cortical dysplasia, Hydrocephalus, Cereb...	OMIM:613155
Costello Syndrome	Narrow palate, Macrocephaly, Thick lower lip vermilion, Joint hypermobility, Abnormal dental enam...	ORPHA:3071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Death in infancy, Su...	OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Sandal gap, Wide nose, Dental crowding, High palate, Narrow mouth, Ankyloglossia, ...	OMIM:616078
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Decreased carniti...	OMIM:212140
Man1B1-Cdg	Underdeveloped nasolabial fold, Clinodactyly of the 5th finger, Wide nose, Truncal obesity, Joint...	ORPHA:397941
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Microcephaly, Intestinal malrotation, Ventriculomegaly, Anteverted nares, S...	OMIM:244450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Delayed ossification of carpal bones, Abnormal rectum morphology, Abnormal heart morphology, Shor...	OMIM:239300
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Short long bone, Camp...	OMIM:113000
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Increased intramuscular fat, Loss of truncal subcutaneous adipose tissue, Increased...	OMIM:151660
Simpson-Golabi-Behmel Syndrome	Tall stature, Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Death in infancy, Broad ...	ORPHA:373
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Abnormality of the dentition, Micromelia, Growth delay, Sh...	ORPHA:238750
Noonan Syndrome 8	Large for gestational age, Patent ductus arteriosus, Palmoplantar cutis laxa, Relative macrocepha...	OMIM:615355
Chromosome Xp11.23-P11.22 Duplication Syndrome	Thin vermilion border, 2-3 toe cutaneous syndactyly, Short philtrum, Precocious puberty, Widely-s...	OMIM:300801
Distal Limb Deficiencies-Micrognathia Syndrome	Oligodactyly, Microdontia, Split foot, Tarsal synostosis, Abnormal metacarpal morphology, Aplasia...	ORPHA:1307
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce...	ORPHA:96181
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Long nose, Retrognathia, Proximal placement of thumb, Colpocephaly, ...	OMIM:620113
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Long philtrum, Abnormality of the anterior pituitary, Aplasia/Hypoplasia of the cerebellar vermis...	ORPHA:75389
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:91354
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, U-Shaped upper lip vermilion, Death in infancy	OMIM:129850
Tetrasomy 5P	Postnatal growth retardation, Short nose, Long philtrum, Macrocephaly, Clinodactyly of the 5th fi...	ORPHA:3309
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Abnormal vena cava morphology, Ventricular septal defect, Sh...	ORPHA:166035
Au-Kline Syndrome	Retrognathia, Bifid nasal tip, Lipomyelomeningocele, Shallow orbits, Bifid uvula, Craniosynostosi...	OMIM:616580
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Proximal placement of thumb, 11 pairs of r...	OMIM:618624
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Aicardi-Goutieres Syndrome 4	Cerebral atrophy, Death in childhood, Hydrocephalus, Progressive microcephaly, Cerebral calcifica...	OMIM:610333
Feingold Syndrome 2	Postnatal growth retardation, Secondary microcephaly, Intestinal atresia, 2-3 toe syndactyly, Sho...	OMIM:614326
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Cryptorchidism, Communicating hydrocephalus, Micrognathia, Deep p...	ORPHA:1237
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Thick lower lip vermilion, Hypospadias, Horseshoe kidney, Dysplastic ...	OMIM:619103
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hyp...	ORPHA:457284
Lissencephaly 5	Hypoplasia of the corpus callosum, Occipital encephalocele, Macrocephaly, Hydrocephalus, Cerebell...	OMIM:615191
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ...	OMIM:615830
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tort...	OMIM:619472
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
1Q44 Microdeletion Syndrome	Thin vermilion border, Optic disc hypoplasia, Hydrocephalus, Vesicoureteral reflux, High palate, ...	ORPHA:238769
Mosaic Trisomy 16	Meckel diverticulum, Abnormal heart morphology, Wide mouth, Syndactyly, Intrauterine growth retar...	ORPHA:1708
Noonan Syndrome 4	Large for gestational age, Macrocephaly, Cubitus valgus, Ureteral duplication, Dental malocclusio...	OMIM:610733
Vitamin D-Dependent Rickets, Type 2A	Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R...	OMIM:277440
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges ...	OMIM:619269
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia, Microcephaly, Absent thumb, Colpocephaly, Intrauterine gr...	OMIM:609053
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight	OMIM:614651
Orofaciodigital Syndrome Type 14	Microcephaly, Accessory oral frenulum, Aplasia of the epiglottis, Dandy-Walker malformation, Open...	ORPHA:434179
Baraitser-Winter Syndrome 2	Secondary microcephaly, Retrognathia, Microphthalmia, Orofacial cleft, Coloboma, Short stature, W...	OMIM:614583
Rubinstein-Taybi Syndrome 2	Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Low hanging columella, Increa...	OMIM:613684
Toriello-Carey Syndrome	Cardiomyopathy, Pulmonic stenosis, Microcephaly, Intrauterine growth retardation, Ventriculomegal...	ORPHA:3338
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Codas Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Broad skull,...	OMIM:600373
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Type II lissencephaly, Lateral ventricle dilatation, Joint hypermobility,...	ORPHA:300570
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Abnormal circulating calcium-phosphate regulating hor...	ORPHA:2636
Arachnoid Cyst	Urinary incontinence, Encephalocele, Abnormality of the endocrine system, Hydrocephalus, Urinary ...	ORPHA:2356
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me...	ORPHA:1452
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:611808
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Microphthalmia, Short long bone, Short ribs, Septate vagina, Absent...	OMIM:617925
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Short stature, Microcephaly, Int...	ORPHA:2515
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Umbilic...	ORPHA:2496
Char Syndrome	Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Symphalangism of the 5th finger...	ORPHA:46627
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:184260
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Microcephaly, Recurrent sinusitis, Joint hypermobility, Overlapping toe, Craniosynostosis, Decrea...	OMIM:213980
Opitz Gbbb Syndrome	Solitary median maxillary central incisor, Microcephaly, Unilateral cleft lip, Abnormal nasophary...	OMIM:300000
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:1788
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Proptosis, Short metacarpal, Relative mac...	OMIM:615777
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Postaxial hand polydactyly, Duplication of phalan...	OMIM:617127
Smith-Magenis Syndrome	Orofacial cleft, Everted upper lip vermilion, Ventriculomegaly, Mandibular prognathia, Increased ...	OMIM:182290
Lissencephaly 6 With Microcephaly	Hypoplasia of the corpus callosum, Widely spaced teeth, Polymicrogyria, Microlissencephaly, Singl...	OMIM:616212
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
X-Linked Intellectual Disability, Shashi Type	Obesity, Bulbous nose, Macroorchidism, Everted lower lip vermilion	ORPHA:85286
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Flared iliac wing, Dermatan sulfate excretion in urine, J...	OMIM:607014
Hypomandibular Faciocranial Dysostosis	Short nose, Recurrent respiratory infections, Anteverted nares, Maxillozygomatic hypoplasia, Prop...	ORPHA:1790
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Joubert Syndrome 10	Macrocephaly, Cerebellar vermis hypoplasia, Postaxial hand polydactyly, Decreased body weight, Sh...	OMIM:300804
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Microcephaly, Syndactyly, Cervical...	OMIM:148050
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Anterio...	ORPHA:67045
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Inferior cerebellar vermis hypoplasia, Sma...	OMIM:619476
Microphthalmia, Lenz Type	Orofacial cleft, Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Hy...	ORPHA:568
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, Microcephaly, Generalized osteoporosis, Bifid uvula, S...	ORPHA:2959
Galloway-Mowat Syndrome 1	Microphthalmia, Narrow nasal ridge, Microcephaly, Wide mouth, Intrauterine growth retardation, Ve...	OMIM:251300
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal metacarpal morphology, Hydrocephalus, Proptosis, Choanal atr...	ORPHA:93262
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Pulmonic stenosis, Sinusitis, Proportionate tall stature, Abnormal heart morphology, Mitral valve...	ORPHA:363700
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Short stature, Obesity, Small scrotum, Micropenis	OMIM:245800
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, Macrocephaly, Patent ductus arteriosus, High palate, Choanal atresia, Bilateral cry...	OMIM:300472
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abn...	OMIM:308050
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Monosomy 13Q34	Microcephaly, Postaxial hand polydactyly, Prominent nose, Pulmonic stenosis, Common atrium, Growt...	ORPHA:96168
Kyphoscoliotic Ehlers-Danlos Syndrome	Arachnodactyly, Disproportionate tall stature, Dislocated wrist, Umbilical hernia, Bicuspid aorti...	ORPHA:536545
Yuan-Harel-Lupski Syndrome	Long philtrum, Clinodactyly of the 5th finger, Sandal gap, Wide nose, Aortic root aneurysm, High ...	OMIM:616652
Congenital Myopathy 9A	Tongue fasciculations, Death in infancy, Short stature, Obesity, Cryptorchidism	OMIM:618822
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, Deep palmar crease, Clinodactyly of the 5th finger, Cra...	OMIM:619451
Fried Syndrome	Hydrocephalus, Cerebral calcification, High palate, Short philtrum	ORPHA:85335
Bardet-Biedl Syndrome 6	External genital hypoplasia, Hypospadias, Renal cyst, Postaxial polydactyly, Obesity, Syndactyly,...	OMIM:605231
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Dental crowding, Shallow orbits, Broad thumb, Syndactyly, Hydroceph...	OMIM:101600
8Q21.11 Microdeletion Syndrome	Microphthalmia, Abnormal metacarpal morphology, Wide nose, Hypoplasia of penis, Finger syndactyly...	ORPHA:284160
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Thin corpus callosum, Cubitus valgus, Widely spaced teeth, Wide nose, Anteverted ...	OMIM:619694
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Proptosis, ...	ORPHA:508533
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Prominent fingertip pads, Probst bundles, Mitral valve prolapse, Dysplastic tricuspid...	OMIM:612863
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Retrognathia, Large for gestational age, Macrocephaly, Clinodactyly o...	ORPHA:544488
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Iliac crest serration, Dea...	OMIM:613320
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal finger morphology, Glossoptosis, Wrist flexion contracture, Arachnodactyly, Overlapping ...	ORPHA:436003
Abruzzo-Erickson Syndrome	Hypospadias, Coloboma, Short stature, Cleft palate, Radioulnar synostosis	OMIM:302905
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met...	OMIM:174200
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Anteverted nares, Abnormal dental enam...	ORPHA:2107
Iniencephaly	Rocker bottom foot, Orofacial cleft, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy...	ORPHA:63259
Blepharonasofacial Malformation Syndrome	Long philtrum, Wide nose, Finger syndactyly, Non-midline cleft of the upper lip, Tooth agenesis, ...	ORPHA:1252
Craniotelencephalic Dysplasia	Microphthalmia, Craniosynostosis, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of...	ORPHA:1528
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Dental crowding, Relative macrocephaly, Wide mouth, Left ventricular hypertrophy...	ORPHA:466791
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Unicameral bone cyst, Cardiomyopathy, Proteinuria, Polycystic ovaries, Insulin-...	ORPHA:79086
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Johnson Neuroectodermal Syndrome	Anosmia, Choanal atresia, Everted lower lip vermilion, Microcephaly, Carious teeth, Hand polydact...	ORPHA:2316
Roifman Syndrome	Short metacarpal, Microcephaly, Irregular femoral epiphysis, Long philtrum, Intrauterine growth r...	OMIM:616651
Oculoauriculofrontonasal Syndrome	Macrocephaly, Wide nose, Encephalocele, Bifid nasal tip, Narrow mouth, Microcephaly, Micrognathia...	ORPHA:398156
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Abnormal pelvic girdle bone morphology, Furrowed tongue, Microme...	ORPHA:2928
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Hypospadias, Anencephaly, Encephalocele, Hydrocephalu...	ORPHA:1335
Popliteal Pterygium Syndrome	Spina bifida occulta, Bifid scrotum, Cutaneous finger syndactyly, Cleft upper lip, Bifid uvula, C...	OMIM:119500
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Death in childhood, Anteverted nares, Short long bone, Proptosis, Short ribs, Coarse ...	OMIM:618961
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Feingold Syndrome Type 2	Short stature, Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Jejunal ...	ORPHA:391646
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Tyshchenko Syndrome	Hypoplasia of the corpus callosum, Narrow palate, High, narrow palate, Ventricular septal defect,...	OMIM:615102
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Enlarged kidney, Overgrowth, Foot polydactyly, 2-4 toe syndactyly, Abnormal venous ...	ORPHA:276280
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Hypomelanosis Of Ito	Cerebral atrophy, Radial deviation of finger, Macrocephaly, Thick lower lip vermilion, Gray matte...	OMIM:300337
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Orofacial cleft, Macrocephaly, Renal insufficiency, Hydrocephalus, Antev...	ORPHA:1454
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Everted upper lip vermilion, Sandal gap, Bifid nasal ti...	OMIM:300855
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Marfanoid-Progeroid-Lipodystrophy Syndrome	Retrognathia, Tall stature, Macrocephaly, High, narrow palate, Hydrocephalus, Hyperextensibility ...	OMIM:616914
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Cowden Syndrome	Neoplasm of the thyroid gland, Adenoma sebaceum, Macrocephaly, Abnormal penis morphology, Colorec...	ORPHA:201
Cenani-Lenz Syndrome	Oligodactyly, Proptosis, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnor...	ORPHA:3258
46,Xy Sex Reversal 1	Absence of secondary sex characteristics, Gonadal dysgenesis, Abnormal female external genitalia ...	OMIM:400044
Kaposiform Lymphangiomatosis	Enlarged kidney, Pericardial effusion, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pa...	ORPHA:464329
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co...	OMIM:615954
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Sagittal craniosynostosis	OMIM:123155
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Death in adolescence, Death in infancy, Renal cortical microcysts, Colpocep...	OMIM:614866
Crouzon Syndrome	Narrow palate, Hydrocephalus, Proptosis, Choanal atresia, Multiple suture craniosynostosis, Hypop...	ORPHA:207
Alexander Disease Type I	Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus...	ORPHA:363717
Genitopatellar Syndrome	Clitoral hypertrophy, Thin corpus callosum, Hypoplastic ischia, Microcephaly, Colpocephaly, Small...	OMIM:606170
Eng-Strom Syndrome	Arthritis, Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine growth retardation...	ORPHA:1937
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Macrocephaly, Widely spaced teeth, Wide nose, Anteverted nares, Shor...	OMIM:619056
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short met...	ORPHA:56304
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Proptosis, Short metacarpal, Abnormally ossified vertebrae, Glossoptos...	ORPHA:1427
Kleeblattschaedel	Hydrocephalus, Craniosynostosis, Proptosis, Elbow ankylosis	OMIM:148800
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Preaxial polydactyly, Precocious puberty, Abnormality of neuronal m...	ORPHA:163681
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo...	ORPHA:1597
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Microcephaly	ORPHA:26
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Glossoptosis, Intrauterine growth retardation, Tongue no...	OMIM:311900
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Proptosis, Pulmonic stenosis, Deep palmar crease, Hydrocephalus, Anteverte...	OMIM:115150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Proptosis, Microdontia, Arachnodactyly, Slender long bones with narrow d...	ORPHA:536467
Intellectual Developmental Disorder, Autosomal Recessive 68	Periventricular leukomalacia, Hydrocephalus, Microcephaly, Hypoplasia of the maxilla, Small for g...	OMIM:618302
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Delayed puberty, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Limitation of joint mobili...	ORPHA:2994
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Cerebral calcification, Glossoptosis, Microcephaly, Long ...	ORPHA:1358
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Lower-limb joint contracture, Microcephaly, Ventriculomegaly, Anteve...	ORPHA:513456
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Tall stature, Macrocephaly, Clinodactyly of the 5th finger, Sandal gap, Obesity, Down...	OMIM:618430
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Macrocephaly, Dextrocardia, Craniosynostosis, Pyloric stenosis,...	ORPHA:261197
Bohring-Opitz Syndrome	Retrognathia, Proptosis, Microcephaly, Intrauterine growth retardation, Cardiomegaly, Ventriculom...	ORPHA:97297
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Umbilical hernia, Long ph...	OMIM:265000
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrocephaly, Unilateral renal agenesis, Abnormally large globe, Increased overbite, Cryptorchidi...	OMIM:618504
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Microphthalmia, Syndromic 1	Microphthalmia, Radial deviation of finger, Dental crowding, Prominent fingertip pads, Microcepha...	OMIM:309800
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, High, narrow palate, Split hand, Short stature, Obesity	OMIM:618124
Dubowitz Syndrome	Microphthalmia, Agenesis of permanent teeth, Microcephaly, Syndactyly, Intrauterine growth retard...	OMIM:223370
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Joubert Syndrome 8	Prolonged neonatal jaundice, Obesity, Hepatomegaly	OMIM:612291
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
3Q29 Microduplication Syndrome	Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Craniosynostosis, Ectopic anus, High palate, ...	ORPHA:251038
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Aplasia/Hypoplasia of the lung...	ORPHA:2204
Spondyloenchondrodysplasia	Cerebral calcification, Abnormal periventricular white matter morphology, Short distal phalanx of...	ORPHA:1855
Lymphedema, Primary, With Myelodysplasia	Long fingers, Hypotelorism, Tapered finger	OMIM:614038
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Acrocephalopolydactyly	Short nose, Short long bone, Depressed nasal ridge, Limb undergrowth, Brachydactyly, Hypertelorism	ORPHA:221054
Velocardiofacial Syndrome	Retrognathia, Right aortic arch with mirror image branching, Microcephaly, Umbilical hernia, Abno...	OMIM:192430
Thakker-Donnai Syndrome	Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Antev...	ORPHA:1780
Sweeney-Cox Syndrome	Short distal phalanx of finger, Short philtrum, Patent foramen ovale, Choanal atresia, Broad nasa...	OMIM:617746
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Hypoplastic labia minora, Micromelia, Upper limb...	ORPHA:64755
Symptomatic Form Of Hfe-Related Hemochromatosis	Stiff interphalangeal joints, Erectile dysfunction, Arthritis, Decreased libido, Cardiomyopathy, ...	ORPHA:465508
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Bowing of the long bones, Camptodactyly, Renal cyst, Posta...	OMIM:614815
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short nose, Retrognathia, Recurrent lower respiratory tract infections, High palate, ...	OMIM:618005
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Short long bone, Short ribs, Intestinal malrotation, Me...	OMIM:263520
Meier-Gorlin Syndrome 1	Clitoral hypertrophy, Absent sternal ossification, Short ribs, Microdontia, Death in infancy, Mic...	OMIM:224690
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anal stenosis, Anophthalmia, Bifid nasal tip, Broad nasal tip, Vaginal atresia, H...	OMIM:248450
Renpenning Syndrome 1	Microphthalmia, Microcephaly, Hypospadias, Short philtrum, Phimosis, Camptodactyly, Short stature...	OMIM:309500
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Microcephaly, Intestinal malrotation, Wide mouth, Hydroce...	OMIM:243605
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Thanatophoric Dysplasia, Type I	Macrocephaly, Disproportionate short-limb short stature, Short greater sciatic notch, Hydrocephal...	OMIM:187600
Hydatidiform Mole	Menometrorrhagia, Anemia, Enlarged uterus	ORPHA:99927
Congenital Muscular Dystrophy, Fukuyama Type	Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Type II lissencephaly, Camptodactyly of...	ORPHA:272
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep...	OMIM:603387
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Prostatitis, Renal interstitial immu...	ORPHA:449395
Achondrogenesis Type 1B	Short nose, Long philtrum, Macrocephaly, Anteverted nares, Aplasia/Hypoplasia of the lungs, Abnor...	ORPHA:93298
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Short nose, Triphalangeal thumb, Severe postnatal growth retardation, Dandy-W...	ORPHA:3078
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Hydrocephalus, Meckel diverticulum,...	ORPHA:1666
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macrocephaly, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Right atrial enlargement,...	OMIM:615219
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Bulging of the costochondral junction, Femoral bowing, Tibial bowing, ...	OMIM:264700
Pfeiffer Syndrome Type 2	Deviation of the thumb, Proptosis, Broad thumb, Intestinal malrotation, Hydrocephalus, Choanal at...	ORPHA:93259
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:614702
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology, Unilateral renal agenesis, Vesicoureteral reflux, Gray matter ...	ORPHA:2512
Pituitary Gigantism	Tall stature, Premature pubarche, Increased circulating prolactin concentration, Mandibular progn...	ORPHA:99725
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Meningocele, Dental crowding, Ventricular septal ...	ORPHA:2789
Band Heterotopia	Macrocephaly, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Ventricular septal defect, A...	OMIM:615503
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Widely spaced teeth, Clinodactyly of the 5th finger, Single transverse palmar crease,...	OMIM:619717
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Horseshoe kidney, Abnormality of dental color, Abnormal fin...	OMIM:163200
Acro-Renal-Mandibular Syndrome	Tracheoesophageal fistula, Split foot, Intrauterine growth retardation, Hip dislocation, Hypoplas...	ORPHA:958
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Genu valgum, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of ...	ORPHA:1381
6Q16 Microdeletion Syndrome	Retrognathia, Macrocephaly, Anteverted nares, Micrognathia, Obesity, Bulbous nose, Tapered finger...	ORPHA:171829
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Abdominal obesity, Truncal obesity	OMIM:618160
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ...	OMIM:613986
Duplication Of The Pituitary Gland	Retrognathia, Supernumerary tooth, Encephalocele, Abnormality of joint mobility, Abnormal pituita...	ORPHA:314621
Duane-Radial Ray Syndrome	Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Abnor...	OMIM:607323
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Neonatal hypoglycemia, Abnormal pancreas morphology, Conge...	ORPHA:116
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Okamoto Syndrome	Urinary incontinence, Proptosis, Aortic valve stenosis, Abnormal mitral valve morphology, Microce...	ORPHA:2729
Kinsship Syndrome	Dislocated radial head, Death in infancy, Microcephaly, Mesomelia, Wide mouth, Cervical ribs, Ven...	OMIM:619297
Achondrogenesis Type 1A	Short nose, Macrocephaly, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification...	ORPHA:93299
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Long philtrum, Decreased body mass index, Short philtrum, Long toe,...	OMIM:615668
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Thyroid adenoma, Adenomatous colonic polyposis,...	OMIM:617100
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bon...	ORPHA:666
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619386
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal bone ossification, Abnormal diaphysis morphology, Generali...	ORPHA:73230
Alstrom Syndrome	Polydactyly, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes in...	OMIM:203800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Hallermann-Streiff Syndrome	Microphthalmia, Reduced bone mineral density, Short ribs, Glossoptosis, Microcephaly, Rib exostos...	ORPHA:2108
Floating-Harbor Syndrome	Long nose, Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Nephrocalcinosis, W...	ORPHA:2044
Sonoda Syndrome	High axial triradius, Narrow mouth, Short stature, Ventricular septal defect, Depressed nasal bridge	OMIM:270460
Van Esch-O'Driscoll Syndrome	Retrognathia, Tracheoesophageal fistula, Shallow orbits, Microcephaly, Bifid uvula, Wide mouth, I...	OMIM:301030
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Finger syndactyly, Abnormal dental enamel morphology,...	ORPHA:3253
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Larsen Syndrome	Multiple carpal ossification centers, Short metacarpal, Shallow orbits, Dislocated wrist, Intraut...	OMIM:150250
Aicardi Syndrome	Delayed puberty, Microphthalmia, Intestinal polyposis, Microcephaly, Ventriculomegaly, Aplasia/Hy...	ORPHA:50
Zttk Syndrome	Relative macrocephaly, Bifid uvula, Cervical ribs, Intrauterine growth retardation, Ventriculomeg...	OMIM:617140
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation, Hypothyroidism, Long philtrum, Cerebellar hypoplasia, H...	ORPHA:79332
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short nose, Perimembranous ventricular septal defect, Transposition of the great arte...	OMIM:617877
Galloway-Mowat Syndrome 9	Secondary microcephaly, Thin corpus callosum, Hypotelorism, Focal segmental glomerulosclerosis, M...	OMIM:619603
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Cardiomyopathy, Large iliac wing, Dermatan sulfate excretion in uri...	OMIM:253220
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Hypoplasia of the corpus callosum, Short nose, Absent cupid's bow, Patent ductus arteriosus, Vent...	ORPHA:284169
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypotelorism, Single transverse palmar crease, Increased CSF lactate, High palate...	OMIM:619053
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Short ribs, Microdontia, Mesomelia, Syndactyly, Short dist...	OMIM:614091
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Tracheobronchomalacia, Dental crowding, Short long bone, Microcephaly, Joint stiffness...	OMIM:619184
Burn-Mckeown Syndrome	Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Unilateral ...	OMIM:608572
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A...	ORPHA:300573
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Death in childhood, Focal segmental glomerulosclerosis, ...	OMIM:301108
Classic Galactosemia	Delayed puberty, Premature ovarian insufficiency, Male infertility, Reduced bone mineral density,...	ORPHA:79239
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, Abnormal reproductive system morphology, Wide no...	ORPHA:1521
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Microphthalmia, ...	OMIM:603467
Bloom Syndrome	Postnatal growth retardation, Agenesis of maxillary lateral incisor, Clinodactyly of the 5th fing...	OMIM:210900
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Failure to thrive, Hepatic steatosis	ORPHA:70472
Asherman Syndrome	Secondary amenorrhea, Miscarriage, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the ...	ORPHA:137686
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Tarsal synostosis, Aganglionic megacolon, Abnormal metacarpal morphology, Uroge...	ORPHA:2473
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, Abnormal ...	ORPHA:505248
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch...	OMIM:618254
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia	OMIM:618838
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Long nose, Retrognathia, Tall stature, Everted lower ...	OMIM:620450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Bicuspid aortic valve, Septate vagina, Intrauterine growth retardation, Joi...	OMIM:300707
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le...	ORPHA:300373
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Urinary incontinence, Microcephaly, Intrauterine growth retardation, Short 5th finger,...	OMIM:619522
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Hypoplasia of the corpus callosum, Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped...	OMIM:617102
Craniofrontonasal Syndrome	Hypoplastic nasal tip, Bifid nasal tip, Umbilical hernia, Joint hypermobility, Breast hypoplasia,...	OMIM:304110
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Posterior r...	OMIM:265380
Robinow Syndrome, Autosomal Recessive 2	Sandal gap, Prominent fingertip pads, Proptosis, Relative macrocephaly, Broad thumb, Mesomelia, L...	OMIM:618529
Momo Syndrome	Macrocephaly, Thick lower lip vermilion, Delayed eruption of teeth, Overgrowth, High palate, Reti...	OMIM:157980
Wagro Syndrome	Hypoplastic female external genitalia, Aniridia, Dental crowding, Mandibular prognathia, Decrease...	OMIM:612469
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Anteverted nares, Limited...	OMIM:615065
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Thin corpus callosum, Slender long bone, Single tran...	OMIM:616202
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
Familial Glucocorticoid Deficiency	Renal salt wasting, Tall stature, Azoospermia, Decreased circulating dehydroepiandrosterone conce...	ORPHA:361
Symmetrical Thalamic Calcifications	Microcephaly, Failure to thrive, Abnormality of neuronal migration, Cerebral calcification	ORPHA:1314
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Bardet-Biedl Syndrome 3	External genital hypoplasia, Postaxial polydactyly, Renal hypoplasia, Obesity, Brachydactyly	OMIM:600151
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Hypoplasia of penis, Short ribs, Urethrovaginal fistul...	ORPHA:93271
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda...	OMIM:617866
Ring Chromosome 12 Syndrome	Breast hypoplasia, High, narrow palate, Abnormal 5th finger morphology, Uterine leiomyoma, Glandu...	ORPHA:1439
Achondroplasia	Narrow greater sciatic notch, Megalencephaly, Femoral bowing, Short ribs, Trident hand, Death in ...	OMIM:100800
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, C...	OMIM:216340
Hemimegalencephaly	Hyperintensity of cerebral white matter on MRI, Macrocephaly, Focal cortical dysplasia, Polymicro...	ORPHA:99802
Obesity Due To Sim1 Deficiency	Obesity	ORPHA:369873
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microdontia, Microcephaly, Intrauterine growth retardation, Joint hypermobility, Clinodactyly, Sh...	OMIM:617360
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Dental crowding, Microcephaly, Long philtrum, Short philtrum, Oligodont...	OMIM:617061
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Thyroid hypoplasia, Bifid uvula, Broad philtrum, Aplasia of the thymus, Intrauter...	OMIM:620186
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Relative macrocephaly, Pulmonic stenosis, Bifid uvula, Joint hypermobilit...	OMIM:617506
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup...	OMIM:618506
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Disproportionate short-limb short statu...	ORPHA:175
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectovaginal fistula, Hydrocephalus, Perineal fistula, Oligodactyly, Ec...	ORPHA:3016
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microdontia, ...	OMIM:613458
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypoplasia of the corpus callosum, Long philtrum, Widely spaced teeth, Hypospadias, Small pituita...	OMIM:619479
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia,...	ORPHA:352682
Tatton-Brown-Rahman Syndrome	Thin vermilion border, Tall stature, Macrocephaly, Everted upper lip vermilion, Encephalomalacia,...	OMIM:615879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Hydrocephalus, Progressive microcephaly, Type II lissence...	OMIM:615249
Glutamine Deficiency, Congenital	Hypoplasia of the corpus callosum, Short nose, Subependymal cysts, Decreased CSF glutamine concen...	OMIM:610015
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Proptosis, Everted lower lip vermilion, Umbilical hernia, Long philtrum, Advanced...	ORPHA:1519
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria	ORPHA:251004
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Long nose, Retrognathia, Neoplasm of the tongue, Thyr...	ORPHA:3047
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Ambiguous genitalia, Increased urinary cortisol ...	ORPHA:786
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Neonatal short-limb short stature, Encephalocele, Hydrocephalus, Sh...	OMIM:224400
Faciodigitogenital Syndrome, Autosomal Recessive	Pollakisuria, Wide mouth, Syndactyly, Narrow palate, Anteverted nares, Camptodactyly, Proportiona...	OMIM:227330
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Orofaciodigital Syndrome Viii	Polydactyly, Bifid nasal tip, High palate, Short stature, Cleft palate, Broad nasal tip, Syndacty...	OMIM:300484
Mucopolysaccharidosis Type 1	Abnormal hip bone morphology, Everted lower lip vermilion, Microdontia, Sinusitis, Joint stiffnes...	ORPHA:579
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Macrocephaly, Abnormal metacarpal morphology, Genera...	ORPHA:53
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Osteopenia, Macrocephaly, Lambdoidal craniosynostosis, Hydrocephalu...	OMIM:616294
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
Schneckenbecken Dysplasia	Stillbirth, Short nose, Macrocephaly, Disproportionate short-limb short stature, Snail-like ilia,...	OMIM:269250
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Microcephaly, Arachnodactyly, Intrauterine growth retardation, Short distal phalanx o...	ORPHA:261330
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Dental crowding, Short metacarpal, Microcephaly, Intrauterine growth retardation, S...	OMIM:617157
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Long philtrum, Underdeveloped nasolabial fold, Deep palmar crease, Prominent nasal tip, Organic a...	OMIM:620191
Craniofacioskeletal Syndrome	Hypoplastic frontal sinuses, Microcephaly, Intrauterine growth retardation, Hypospadias, Short ph...	OMIM:300712
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Macrocephaly, Short philtrum, Renal tubular acidosis, Hydrocephalus, Dilated...	OMIM:619575
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Abnormal lung lobation, Retrognathia, Thin vermilion border, Abno...	ORPHA:2631
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Abnormality of the endocrine system, Abnormal periventricular white ...	ORPHA:487796
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Adams-Oliver Syndrome 1	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bicuspid aortic valve, Ve...	OMIM:100300
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Microdontia, Bifid uvula, Syndactyly, Small, conical teeth, Nar...	OMIM:129400
Tenorio Syndrome	Osteopenia, Macrocephaly, Recurrent aphthous stomatitis, Wide nose, Cavum septum pellucidum, Hydr...	OMIM:616260
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Conical tooth, Mi...	OMIM:263750
Global Developmental Delay With Speech And Behavioral Abnormalities	Macrocephaly, Anal atresia, Precocious puberty, Microcephaly, Micrognathia, Joint hypermobility, ...	OMIM:619243
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology,...	ORPHA:857
Pitt-Hopkins Syndrome	Microcephaly, Wide mouth, Aganglionic megacolon, Short philtrum, Tooth malposition, Anteverted na...	ORPHA:2896
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Macrocephaly, Hydrocephalus, Proptosis, Short stature, Rieger anomaly, Hypoplasia of the maxilla,...	OMIM:109120
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Clitoral hypertrophy, Hyperinsulinemia, Advanced eruption of teeth, Long penis, Mandibular progna...	OMIM:262190
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Long philtrum, Intestinal pseudo-obstruction, Finger syndactyly, Cerebral calcifica...	ORPHA:73246
Bartsocas-Papas Syndrome	Short nose, Finger syndactyly, Hypoplastic male external genitalia, Narrow mouth, Synostosis of j...	ORPHA:1234
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Mandibular prognathia, Hypoplastic nipples, Abnormality of the de...	OMIM:618505
Laron Syndrome	Short long bone, Delayed menarche, Limb undergrowth, Severe short stature, Decreased serum insuli...	OMIM:262500
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Macrocephaly, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxi...	ORPHA:397973
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Anteriorly placed anus, Anteverted na...	OMIM:619980
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Femoral bowing, Cardiomyopathy, Tibial bowing, Genu varum, Rickets, En...	ORPHA:289157
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Decreased response to growth ...	ORPHA:96179
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Microphthalmia, Short ribs, Hypoplastic pelvis, Split f...	ORPHA:2092
Bloom Syndrome	Retrognathia, Cheilitis, Bronchitis, Intrauterine growth retardation, Azoospermia, Oligozoospermi...	ORPHA:125
Pitt-Hopkins-Like Syndrome 2	Pulmonic stenosis, Wide mouth, Protruding tongue	OMIM:614325
Kennedy Disease	Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility	ORPHA:481
Wolfram Syndrome 1	Cerebral atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Cardiomyopathy, Hypothyroi...	OMIM:222300
Tetrasomy 15Q26	Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, High palate, Camptodactyly, Ar...	OMIM:614846
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Intellectual Developmental Disorder, Autosomal Dominant 65	Clinodactyly of the 5th finger, Short philtrum, Single transverse palmar crease, Anteverted nares...	OMIM:619320
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hypoplastic iliac wing, Cardiomyopathy, Flared iliac wing, Dermatan sulfate ...	OMIM:253200
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Proteinuria, Sple...	OMIM:256550
Corpus Callosum, Partial Agenesis Of, X-Linked	Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Aganglionic megacolon, ...	OMIM:304100
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Aganglionic megacolon, Tapered finger, Bulbous nose, Prominent nasal bridge, Flexion ...	OMIM:613870
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Inc...	OMIM:261680
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre...	ORPHA:91347
Frontal Encephalocele	Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla...	ORPHA:1931
Odontochondrodysplasia	Abnormal metaphysis morphology, Short nose, Square pelvis bone, Retrognathia, Delayed eruption of...	ORPHA:166272
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the corpus callosum, Coloboma, Decreased body weight, Anal atresia, Short stature, ...	OMIM:617695
Hurler Syndrome	Cardiomyopathy, Everted lower lip vermilion, Death in infancy, Abnormal epiphysis morphology, Hyd...	ORPHA:93473
Adams-Oliver Syndrome	Periventricular leukomalacia, Microphthalmia, Arteriovenous malformation, Abnormal metacarpal mor...	ORPHA:974
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Type II lissencephaly, Cerebellar hypoplasia, Ventriculomegaly	OMIM:614830
Wolcott-Rallison Syndrome	Decreased body weight, Central hypothyroidism, Hypothyroidism, Short stature, Growth delay, Metap...	ORPHA:1667
Ollier Disease	Abnormal metaphysis morphology, Micromelia, Precocious puberty, Joint stiffness, Osteolysis	ORPHA:296
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Retrognathia, Patent ductus arteriosus, Gingival overgrowth, Macrog...	ORPHA:96191
Coffin-Siris Syndrome 7	Thick lower lip vermilion, Clinodactyly of the 5th finger, Wide nose, Short philtrum, Anteverted ...	OMIM:618027
Peho Syndrome	Short nose, Abnormal palate morphology, Hydrocephalus, Anteverted nares, Gingival overgrowth, Lim...	ORPHA:2836
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Abnormal lung lobation, High, narrow palate, Truncus ...	ORPHA:2516
Alexander Disease	Death in childhood, Hydrocephalus, Death in adolescence, Increased CSF protein concentration, Dea...	OMIM:203450
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Stormorken Syndrome	Hypotelorism, Hematuria, Short philtrum, Short stature, Stroke-like episode, Epistaxis, Subarachn...	OMIM:185070
Primrose Syndrome	Delayed puberty, Reduced bone mineral density, Cerebral calcification, Generalized osteoporosis, ...	OMIM:259050
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Abnormal pancreatic du...	ORPHA:1190
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Glossoptosis, Microcephaly, Failure to...	OMIM:618356
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Hypotelorism, Unicoronal synostosis, Cleft soft palate,...	OMIM:604757
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Baralle-Macken Syndrome	Obesity	OMIM:619255
Malignant Migrating Focal Seizures Of Infancy	Cerebral atrophy, Abnormal corpus callosum morphology, Precocious puberty, Failure to thrive, Mic...	ORPHA:293181
21Q22.11Q22.12 Microdeletion Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Dental crowding, Microcephaly, Clinodactyly, ...	ORPHA:261323
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Microcephaly, 2-4 toe synda...	OMIM:150230
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Megalencephaly, Proptosis, Overgrowth, Shallow orbits, Arachnodactyly, Disproportionate tall stat...	ORPHA:457359
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Con...	ORPHA:2750
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Achondrogenesis	Short nose, Macrocephaly, Anteverted nares, Abnormality of bone mineral density, Abnormal enchond...	ORPHA:932
C Syndrome	Bilateral single transverse palmar creases, Dislocated radial head, Death in infancy, Microcephal...	ORPHA:1308
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Bilobed right lung, Abn...	OMIM:612284
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Nasal polyposis, Recurrent sinusi...	OMIM:620197
Giant Cell Arteritis	Hematuria, Recurrent pharyngitis, Diabetes insipidus, Glossitis, Vasculitis, Arthritis, Double ou...	ORPHA:397
Intellectual Developmental Disorder, Autosomal Dominant 64	Clinodactyly of the 5th finger, Short philtrum, Single transverse palmar crease, Anteverted nares...	OMIM:619188
Neurodevelopmental Disorder With Language Delay And Seizures	Thin corpus callosum, Hypothalamic hamartoma, Cryptorchidism, Hypothyroidism, Growth delay, Diffu...	OMIM:619908
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Pseudopseudohypoparathyroidism	Short 4th metacarpal, Short metatarsal, Ectopic ossification, Short stature, Obesity, Brachydacty...	ORPHA:79445
Tetraamelia Syndrome 1	Microphthalmia, Single naris, Hydrocephalus, Hypoplasia of the fallopian tube, Choanal atresia, H...	OMIM:273395
White-Sutton Syndrome	Hypoplasia of the corpus callosum, Short philtrum, Subcortical cerebral atrophy, High palate, Nar...	ORPHA:468678
Mowat-Wilson Syndrome	Microphthalmia, Bifid scrotum, Pulmonic stenosis, Microcephaly, Abnormal heart morphology, Abnorm...	OMIM:235730
Heart And Brain Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Global brain atrophy, High, ...	OMIM:616920
Craniofaciofrontodigital Syndrome	Proptosis, Aortic valve stenosis, Abnormal cerebral vascular morphology, Cardiomegaly, Bicuspid a...	ORPHA:363705
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Short philtrum, Acces...	OMIM:619143
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesom...	ORPHA:3404
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Bifid scrotum, Split hand, Choanal atresia...	ORPHA:1300
Adams-Oliver Syndrome 4	Microphthalmia, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the di...	OMIM:615297
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Neuralgic Amyotrophy	Scapular winging, Narrow mouth, Short stature, Upper limb amyotrophy, Bifid uvula, Syndactyly, Cl...	ORPHA:2901
Chylomicron Retention Disease	Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, In...	ORPHA:71
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Hypospadias, Short first metatarsal,...	ORPHA:2438
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Inlet ventricular septal defect, Everted lower lip vermilion, Br...	OMIM:619534
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Ventricular septal defect, Cryptorchidism, Short ...	OMIM:249270
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Abnormality of the sphenoid sinus, Anterior hypopituitarism, Diabetes i...	ORPHA:91350
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Abnormal nostril morphology, Recurrent respiratory infections, Truncal obesity, Single transverse...	ORPHA:466950
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Decreased numbe...	OMIM:137920
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration...	OMIM:615486
Dysostosis, Stanescu Type	Cerebral calcification, Proptosis, Tooth agenesis, Microcephaly, Massively thickened long bone co...	ORPHA:1798
Charlie M Syndrome	Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge...	ORPHA:1406
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ...	ORPHA:166002
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hyperintensity of cerebral white matter on MRI, Osteopetrosis, Macrocephaly, Diaphyseal sclerosis...	OMIM:618476
Larsen Syndrome	Broad distal phalanx of finger, Craniosynostosis, Finger syndactyly, Laryngotracheomalacia, Broad...	ORPHA:503
Cree Mental Retardation Syndrome	Rocker bottom foot, Hypospadias, Cleft soft palate, Coloboma, Bifid scrotum, Cryptorchidism, Cuta...	OMIM:606851
Ververi-Brady Syndrome	Transposition of the great arteries, Clinodactyly of the 5th finger, Wide nose, High palate, Intr...	OMIM:617982
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Pancreatic fibrosis, Cystic renal dysplasia, Hepatomegaly	OMIM:200995
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Moebius Syndrome	Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Death in infanc...	ORPHA:570
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni...	ORPHA:454840
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Narrow mouth, Camptodactyly, Osteoporo...	OMIM:616006
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Microdontia, Microcephaly, Eclabion, Wide mouth, Joint hy...	OMIM:619950
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Microcephaly, Abnormal heart morphology, Cystoc...	ORPHA:322
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Failur...	OMIM:614300
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Caudal Duplication	Ureteral duplication, Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Spina ...	ORPHA:1756
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Fraser Syndrome 3	Abnormal lung lobation, Stillbirth, Wide nose, Hypoplasia of penis, Hydrocephalus, Micrognathia, ...	OMIM:617667
Holoprosencephaly 4	Semilobar holoprosencephaly, Hypotelorism, Median cleft palate, Depressed nasal tip, Absent nasal...	OMIM:142946
Neonatal Adrenoleukodystrophy	Bilateral single transverse palmar creases, Abnormal palate morphology, Macrocephaly, Anteverted ...	ORPHA:44
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hemolytic-uremic syndrome, Hydrocephalus, Osteoporosis, Microcephal...	ORPHA:2169
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Patent ductus arteriosus, Hydrocephalus, Ureteral triplication, High palate, Abse...	OMIM:104350
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Short long bone, Femoral bowing, Clubbing, Tibial bo...	OMIM:601559
Combined Oxidative Phosphorylation Deficiency 25	Cerebral atrophy, Short nose, Long philtrum, Intraventricular hemorrhage, Anteverted nares, Aspir...	OMIM:616430
Timothy Syndrome	Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular septal defect	OMIM:601005
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Proptosis, Choanal atresia, Craniosynostosis, Hypertelorism	OMIM:612247
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Tall stature, Pancreatitis, Inguinal hernia, Failure to thrive, Disproportionate tall stature, He...	OMIM:236200
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Partial ab...	OMIM:220200
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Cognitive impairment	ORPHA:494
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Bardet-Biedl Syndrome 9	Polydactyly, Irregular menstruation, Renal insufficiency, Postaxial hand polydactyly, Postaxial p...	OMIM:615986
Noonan Syndrome 2	Abnormal coronary artery origin, Prominent fingertip pads, Cardiomyopathy, Relative macrocephaly,...	OMIM:605275
Chondrodysplasia, Blomstrand Type	Stillbirth, Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Preductal coar...	OMIM:215045
Mucopolysaccharidosis, Type Ii	Macrocephaly, Thick lower lip vermilion, Widely spaced teeth, Intestinal pseudo-obstruction, Dela...	OMIM:309900
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Wrinkly Skin Syndrome	Progressive microcephaly, Thick cerebral cortex, Slender long bones with narrow diaphyses, Umbili...	ORPHA:2834
Skraban-Deardorff Syndrome	Hypoplasia of the corpus callosum, Absent cupid's bow, Widely spaced teeth, Anteverted nares, Rig...	OMIM:617616
Bone Marrow Failure Syndrome 5	Short stature, Growth delay, Microcephaly, Hypogonadism, Pulmonary fibrosis, Oral leukoplakia, Te...	OMIM:618165
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Macrocephaly, Mild short stature, Upper limb undergrowth, Ging...	OMIM:169400
Sheehan Syndrome	Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insufficiency, Decr...	ORPHA:91355
Lhermitte-Duclos Disease	Neoplasm of the thyroid gland, Macrocephaly, Ovarian neoplasm, Hydrocephalus, Polymicrogyria, Han...	ORPHA:65285
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio...	ORPHA:177
Long-Olsen-Distelmaier Syndrome	Secundum atrial septal defect, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Dilated car...	OMIM:620609
Mody	Abnormality of the kidney, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Renal c...	ORPHA:552
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hydrocephalus, Triceps weakn...	ORPHA:99947
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hypoplasia of the corpus callosum, Reduced bone mineral density, Sh...	OMIM:620210
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:201450
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Arboleda-Tham Syndrome	Sandal gap, Bifid nasal tip, Proptosis, Pulmonic stenosis, Microcephaly, Intestinal malrotation, ...	OMIM:616268
Oeis Complex	Ambiguous genitalia, male, Myelomeningocele, Intestinal malrotation, Absence of the sacrum, Labia...	OMIM:258040
Phelan-Mcdermid Syndrome	Tall stature, Abnormal periventricular white matter morphology, Microcephaly, Joint hypermobility...	OMIM:606232
Nemaline Myopathy 9	High palate, Arthrogryposis multiplex congenita, Micrognathia, Cleft palate, Ventricular septal d...	OMIM:615731
Microphthalmia, Syndromic 11	Microphthalmia, Cleft upper lip, Cleft palate, Agenesis of corpus callosum, Agenesis of pineal gland	OMIM:614402
Choreoacanthocytosis	Abnormal putamen morphology, Frontal cortical atrophy, Arthritis, Protruding tongue, Cerebral cor...	ORPHA:2388
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Polydactyly, Cystic renal dysplasia, Hydroureter, Postaxial hand polydactyly, O...	OMIM:615989
Joubert Syndrome 21	Hypoplasia of the corpus callosum, Occipital encephalocele, Single naris, Encephalocele, Anophtha...	OMIM:615636
Lethal Congenital Contracture Syndrome 10	Convex nasal ridge, Narrow palate, Adducted thumb, Stiff neck, Long philtrum, Femoral bowing, Sho...	OMIM:617022
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Microcephaly, Microgna...	OMIM:225790
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly	OMIM:619013
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Elbow flexion contracture, Abnormal periventricular white matter morphology, Short stature, Abnor...	OMIM:608840
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Coloboma, High palate, Anosmia, Choanal atresia, Cleft lip, Paranasa...	OMIM:603457
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot...	OMIM:617093
Mismatch Repair Cancer Syndrome 4	Colon cancer, Gray matter heterotopia, Agenesis of corpus callosum, Adenomatous colonic polyposis	OMIM:619101
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus, Joint hypermobility, Tall stature	OMIM:236660
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Hypoplasia of the corpus callosum, Short ribs, Ventricular septal defect, Postaxial hand polydact...	ORPHA:2519
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Cleft...	OMIM:600987
Poland Syndrome	Aplasia of the pectoralis major muscle, Reduced bone mineral density, Short ribs, Microcephaly, U...	ORPHA:2911
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Tall stature, High, narrow palate, Hydrocephalus, Shoulder dislocation, Arachnodactyly, Dispropor...	ORPHA:2181
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, D...	ORPHA:3109
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebral atrophy, Long nose, Short nose, Hypoplasia of the corpus callosum, Osteopenia, Slender l...	OMIM:618590
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Sex reversal, Hypospadias, Adrenal gland agenesis	OMIM:611812
Kagami-Ogata Syndrome	Retrognathia, Long philtrum, Anteverted nares, Thin ribs, Pulmonic stenosis, Hypoplasia of the ma...	OMIM:608149
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Abnormal ethmoid bone morphology, Meningocele...	ORPHA:101030
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Brain-Lung-Thyroid Syndrome	Megacystis, Microcephaly, Abnormal cardiac septum morphology, Hypospadias, Patent foramen ovale, ...	ORPHA:209905
Adrenal Hypoplasia, Congenital	Delayed puberty, Renal salt wasting, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious...	OMIM:300200
Sclerosteosis 1	Sclerotic scapulae, Tooth malposition, Mandibular prognathia, Proptosis, Abnormal pelvic girdle b...	OMIM:269500
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Hydrocephalus, Aorti...	OMIM:615599
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Long hallux, Obesity, Tented upper lip v...	OMIM:619854
Transaldolase Deficiency	Thin vermilion border, Clitoral hypertrophy, Short philtrum, Patent foramen ovale, Failure to thr...	OMIM:606003
Mycophenolate Mofetil Embryopathy	Orofacial cleft, Microphthalmia, Ectopic kidney, Tracheomalacia, Hydrocephalus, Tracheoesophageal...	ORPHA:268249
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Stroke, Gray matter hetero...	OMIM:300049
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Cervical insufficiency, ...	OMIM:130050
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Multiple bladder diverticula, Widely spaced teeth, ...	ORPHA:2728
X Small Rings	Reduced bone mineral density, Long philtrum, Joint hypermobility, Bicuspid aortic valve, Antevert...	ORPHA:96201
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Coloboma, Short stature, Syndactyly, Brachydactyly, Clinodactyly, Iris coloboma	OMIM:610023
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Short stature, Cutaneous finger syndactyly, Microcephaly, Syndactyly, Aplasia/Hypoplasia of toe, ...	OMIM:600384
Sclerosteosis	Diaphyseal undertubulation, Abnormality of the nose, Tall stature, Abnormal cortical bone morphol...	ORPHA:3152
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic...	ORPHA:40366
Spastic Paraplegia 11, Autosomal Recessive	Hypoplasia of the corpus callosum, Urinary incontinence, Abnormal periventricular white matter mo...	OMIM:604360
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Syndactyly, Broad ...	OMIM:613610
Phakomatosis Pigmentokeratotica	Hypophosphatemic rickets, Pheochromocytoma, Coloboma, Hemiatrophy, Precocious puberty, Spina bifi...	ORPHA:2874
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Proptosis, High palate, Depressed nasal ridge, Spina bifid...	OMIM:616038
Houge-Janssens Syndrome 1	Macrocephaly, Hydrocephalus, Congenital hip dislocation, Pyloric stenosis, Open mouth, Intrauteri...	OMIM:616355
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Hi...	ORPHA:314795
Teebi-Shaltout Syndrome	Rocker bottom foot, Microphthalmia, Ureteral stenosis, Aortic valve stenosis, Microcephaly, Wide ...	OMIM:272950
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ...	ORPHA:101330
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebral atrophy, Retrognathia, Hypoplasia of the corpus callosum, Thin corpus callosum, Small ep...	OMIM:620269
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy,...	OMIM:201475
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Ventricular septal defect, Glossoptosis, Epiphyseal stippling	OMIM:614876
9P13 Microdeletion Syndrome	External genital hypoplasia, Clinodactyly of the 5th finger, Anteverted nares, High palate, Preco...	ORPHA:324313
Hermansky-Pudlak Syndrome 6	Urinary incontinence, Endometriosis, Neurogenic bladder, Perineal fistula, Anal atresia, Epistaxi...	OMIM:614075
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Esophageal Atresia	Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Clinodactyly, Choanal atresia, Cle...	ORPHA:1199
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Bilateral cryptorchidism, Postaxial polydactyly, ...	OMIM:619471
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte...	ORPHA:185
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Tracheoesophageal fistula, Syndactyly, Abnormal nasophar...	OMIM:192350
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ...	OMIM:252500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Bilateral choanal atresia, Vaginal dryness, Hypospadias, Widely spaced teeth, Conical tooth, Hypo...	OMIM:106260
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Hematuria, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Tubuloint...	OMIM:616901
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, Meningocele, Anteverted nares, Glossoptosis, Bipariet...	ORPHA:2031
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Metaphyseal irregularity, R...	OMIM:241530
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Bifid ureter, Mitral val...	ORPHA:500095
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dan...	OMIM:615287
Microlissencephaly-Micromelia Syndrome	Bilateral single transverse palmar creases, Abnormal circulating calcium-phosphate regulating hor...	ORPHA:50810
Jeune Syndrome	Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Abnormal pelvic gir...	ORPHA:474
Meacham Syndrome	Hypoplasia of penis, Abnormal vagina morphology, Pulmonary sequestration, Aortic valve stenosis, ...	ORPHA:3097
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:605911
Serkal Syndrome	Orofacial cleft, Abnormality of the adrenal glands, Hypospadias, Ventricular septal defect, Pulmo...	ORPHA:139466
Pettigrew Syndrome	Aqueductal stenosis, Calvarial osteosclerosis, Hydrocephalus, Dandy-Walker malformation, Mandibul...	OMIM:304340
Dysbetalipoproteinemia	Acute pancreatitis, Obesity, Hepatomegaly, Hepatic steatosis	ORPHA:412
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Obesity, Cholestasis	OMIM:609734
Giant Axonal Neuropathy	Genu valgum, Abnormal hand morphology, Abnormal pituitary gland morphology, Joint hypermobility, ...	ORPHA:643
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Dental crowding, Proptosis, Scapular winging, Congenital finger fl...	OMIM:620351
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Fanconi Anemia, Complementation Group A	Male infertility, Microphthalmia, Ectopic kidney, Horseshoe kidney, Hypergonadotropic hypogonadis...	OMIM:227650
Kury-Isidor Syndrome	Rocker bottom foot, Widely spaced teeth, Proximal placement of thumb, Triangular mouth, Finger sy...	OMIM:619762
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Somatomammotropinoma	Macrodactyly, Tall stature, Pituitary growth hormone cell adenoma, Impotence, Pituitary adenoma, ...	ORPHA:314769
Muenke Syndrome	High, narrow palate, Tarsal synostosis, Macrocephaly, Hydrocephalus, Proptosis, Short foot, Coron...	ORPHA:53271
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Lower-limb joint contracture, Everted lower lip vermilion, Microcephaly, Long ph...	ORPHA:459070
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism	ORPHA:369929
Omodysplasia 1	Disproportionate short-limb short stature, Limited knee extension, Short humerus, Umbilical herni...	OMIM:258315
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Cleft palate, Agenesis of c...	OMIM:614120
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Retrognathia, Reduced bone mineral density, Narrow nasal ridge, De...	ORPHA:740
Hypophosphatasia, Infantile	Disproportionate short-limb short stature, Short ribs, Elevated urine pyrophosphate, Death in inf...	OMIM:241500
Neurofibromatosis Type 1	Delayed puberty, Tall stature, Abnormal hip bone morphology, Abnormality of the endocrine system,...	ORPHA:636
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Vascular ring, Broad nasal tip, Patent ductus arteriosus, Overriding aorta, Atrial septal defect,...	OMIM:601927
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microc...	OMIM:608670
Isotretinoin-Like Syndrome	Postnatal growth retardation, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphol...	ORPHA:2306
Retinal Dystrophy With Leukodystrophy	Progressive microcephaly, Cleft palate, Hypotelorism	OMIM:618863
Phaver Syndrome	Triphalangeal thumb, Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Abnorma...	ORPHA:2876
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity	ORPHA:411515
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia, Abnormal concentration of acylcarnitine ...	ORPHA:391428
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Acromegaly	Macrodactyly, Tall stature, Abnormality of the endocrine system, Pituitary growth hormone cell ad...	ORPHA:963
20P13 Microdeletion Syndrome	Polydactyly, Macrocephaly, Finger syndactyly, Decreased body weight, Microcephaly, Prominent nasa...	ORPHA:313781
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia,...	ORPHA:228308
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital...	ORPHA:325124
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Ectopic kidney, Wide mouth, Cervical ribs, Hydrocephalus...	OMIM:164210
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Long philtrum, Macrocephaly, Cavum septum pellucidum, Patent foramen ovale, Abnormal ...	ORPHA:457279
Nivelon-Nivelon-Mabille Syndrome	Thin corpus callosum, Cerebellar vermis hypoplasia, Short metacarpal, Micromelia, Male pseudoherm...	OMIM:600092
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee...	OMIM:300972
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Ventricular septal defect, Absent n...	OMIM:618021
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic v...	OMIM:601370
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Hypospadias, Patent ductus arteriosus, Clubbing, Ventricular septal defect, S...	OMIM:600460
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Small pituitary gland, Hydrocephalus, Hypoplasia of the iris, Ventricu...	OMIM:614195
Hermansky-Pudlak Syndrome 10	Cerebral atrophy, Retrognathia, Abnormal pulmonary interstitial morphology, Hypotelorism, Microce...	OMIM:617050
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:94089
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
3-Hydroxyisobutyric Aciduria	Congenital intracerebral calcification, Microcephaly, Failure to thrive, Abnormality of neuronal ...	OMIM:236795
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Fanconi Anemia, Complementation Group C	Microphthalmia, Ectopic kidney, Small for gestational age, Horseshoe kidney, Ventricular septal d...	OMIM:227645
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Mandibular prognathia, Ec...	ORPHA:94066
Xylt1-Cdg	Long philtrum, Flared metaphysis, Short clavicles, Short long bone, Proptosis, Relative macroceph...	ORPHA:370930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Optic nerve hypoplasia, Hyp...	OMIM:615181
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Chromosome 3Q29 Duplication Syndrome	Short nose, Macrocephaly, Abnormally large globe, Multiple palmar creases, Microcephaly, Obesity,...	OMIM:611936
Alexander Disease	Osteopenia, Aqueductal stenosis, Megalencephaly, Macrocephaly, Hydrocephalus, Cerebral calcificat...	ORPHA:58
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Narrow mouth, Short stature, ...	OMIM:620072
Codas Syndrome	Short nose, Midline defect of the nose, Hydroureter, Delayed eruption of teeth, Anteverted nares,...	ORPHA:1458
Osteogenesis Imperfecta, Type Xxiii	Truncal obesity	OMIM:620639
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Short nose, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly...	ORPHA:93258
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly	ORPHA:79128
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Male infertility	OMIM:300991
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
X-Linked Intellectual Disability, Stevenson Type	Tall stature, Obesity	ORPHA:85325
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Woods Syndrome	Limited elbow extension, Thin vermilion border, Low hanging columella, Single transverse palmar c...	OMIM:615236
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Tracheomalacia, Ventricular hypertrophy, Growth delay, Failure...	OMIM:612561
Thanatophoric Dysplasia, Type Ii	Cerebellar hypoplasia, Temporal lobe dysplasia, Flared metaphysis, Short greater sciatic notch, W...	OMIM:187601
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Solitary m...	OMIM:619657
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Citrullinemia, Type Ii, Neonatal-Onset	Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Microvesi...	OMIM:605814
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele...	ORPHA:93322
Myotonic Dystrophy 1	Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Pfeiffer Syndrome Type 3	Proptosis, Broad thumb, Intestinal malrotation, Choanal atresia, Short foot, Cleft palate, Toe sy...	ORPHA:93260
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormality of th...	ORPHA:290
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Wide nose, Low insertion of columella, High palate, Short stature, Dextrotransposition...	OMIM:619995
Noonan Syndrome 1	Radial deviation of finger, Pulmonic stenosis, Hypogonadism, Clinodactyly, Hypospadias, Cryptorch...	OMIM:163950
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
3Mc Syndrome 2	Postnatal growth retardation, Limited elbow movement, Caudal appendage, Hypospadias, Horseshoe ki...	OMIM:265050
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Flat acetabular roof, Bowing of the long bones, Limitation of joi...	ORPHA:1801
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Obesity, Achilles tendon contracture, Left ventricular hypertrophy	OMIM:615418
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Multifocal Atrial Tachycardia	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypothyroidism, Pulmonic stenosis, Left v...	ORPHA:3282
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Proximal placement...	OMIM:618619
Oculoectodermal Syndrome	Bladder exstrophy, Macrocephaly, Giant cell granuloma of mandible, Proptosis, Transient ischemic ...	OMIM:600268
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Joint stiffness, Abnormal mitral valve morphology, Adenoiditis, Umb...	ORPHA:581
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal ep...	ORPHA:79345
Early Infantile Epileptic Encephalopathy	Hypoplasia of the corpus callosum, Short finger, Broad finger, Broad phalanx of the toes, Antever...	ORPHA:1934
Coffin-Lowry Syndrome	Short metacarpal, Everted lower lip vermilion, Microcephaly, Thick nasal septum, Ventriculomegaly...	OMIM:303600
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Bicus...	ORPHA:397951
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Disproportionate short-limb short stature, Delayed ossification of carpal bones, Relative macroce...	OMIM:271510
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom...	OMIM:613327
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Abnormal external genitalia, Aplasia of the uterus, Primary amenorrhea, Ap...	OMIM:158330
Atelis Syndrome 1	Long philtrum, High palate, Prominent nose, Hypothyroidism, Carious teeth, Bronchiectasis, Atrial...	OMIM:620184
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Retrognathia, Long philtrum, Cubitus valgus, Chylothorax, Anteverte...	OMIM:613563
Methimazole Embryofetopathy	Hypospadias, Esophageal atresia, Abnormal aortic morphology, Choanal atresia, Tracheoesophageal f...	ORPHA:1923
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat...	OMIM:620107
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po...	OMIM:607361
Loeys-Dietz Syndrome 5	Retrognathia, Tall stature, Flexion contracture of toe, Proptosis, Overgrowth, Congenital finger ...	OMIM:615582
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Microcephaly, Cleft palate, Short...	OMIM:601355
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Thin corpus callosum, Dental crowding, Microdontia, Microcephaly, Wide mouth, Joint ...	OMIM:618268
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis, Short stature, Coarctation of aorta, C...	OMIM:616559
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Hypoplasia of the corpus callosum, Secondary microcephaly, Optic disc hypoplasia, Cerebellar verm...	OMIM:619306
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Body Mass Index Quantitative Trait Locus 19	Obesity	OMIM:617885
X-Linked Intellectual Disability, Hedera Type	Obesity, Left ventricular hypertrophy	ORPHA:93952
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Reduced bone mineral density, Ventricular septal de...	OMIM:616682
Pontocerebellar Hypoplasia Type 7	Hypoplasia of the corpus callosum, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rug...	ORPHA:284339
Cardiospondylocarpofacial Syndrome	Hypoplastic nasal tip, Wide mouth, Dysplastic tricuspid valve, Joint hypermobility, Long philtrum...	OMIM:157800
Acquired Aneurysmal Subarachnoid Hemorrhage	Ischemic stroke, Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Hypothyroidism, Abnorm...	ORPHA:90065
Whipple Disease	Myocarditis, Erectile dysfunction, Pleuritis, Hydrocephalus, Cachexia, Arthritis, Proptosis, Hypo...	ORPHA:3452
Burkitt Lymphoma	Neoplasm of the oral cavity, Intestinal obstruction, Abnormality of the ovary	ORPHA:543
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia, Abdominal situs inversus	OMIM:619607
Nasu-Hakola Disease	Reduced bone mineral density, Hydrocephalus, Cerebral calcification, Bone cyst, Limitation of joi...	ORPHA:2770
Lumbar Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Myelomeningocele, Spina bifida, ...	ORPHA:83628
Noonan Syndrome 10	Cubitus valgus, Patent ductus arteriosus, Palmoplantar cutis laxa, Relative macrocephaly, Ventric...	OMIM:616564
Osteopetrosis, Autosomal Recessive 5	Cerebral atrophy, Stillbirth, Hip subluxation, Cranial hyperostosis, Osteopetrosis, Flared metaph...	OMIM:259720
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Microphthalmia, Long nose, Hypoplasia of the primary teeth, Dental ...	OMIM:257850
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased te...	OMIM:616113
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato...	ORPHA:298
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Microcephaly, Prominent nasal bridge, Severe short stature, Abnormality o...	ORPHA:2220
Chromosome 15Q25 Deletion Syndrome	Hypoplasia of the corpus callosum, Thin vermilion border, Dextrocardia, Coronary artery fistula, ...	OMIM:614294
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Short philtrum, Dental crowding, Dilated third ventricle, Obesity, Lateral vent...	OMIM:617296
Hec Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Wide nose, Anophthalmia, Chylothorax, Anteverted nares, Pleural effusion, Microce...	ORPHA:2526
Blepharocheilodontic Syndrome 1	Neural tube defect, Conical tooth, Choanal atresia, Cutaneous syndactyly, Anal atresia, Cleft upp...	OMIM:119580
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Cryptorchidism, Syndactyly, Cerebral cortical atrophy	ORPHA:404451
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro...	ORPHA:93351
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic...	ORPHA:228305
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Proptosis, Bifid scrotum, Bifid uvula, Broad ph...	OMIM:211380
Costello Syndrome	Limited elbow movement, Overgrowth, Pulmonic stenosis, Mitral valve prolapse, Ventriculomegaly, D...	OMIM:218040
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia, Coloboma, Chorioretinal coloboma, Agenesis of corpus...	OMIM:619111
Brain Small Vessel Disease 2	Polymicrogyria, Porencephalic cyst, Growth delay, Subcortical heterotopia, Schizencephaly, Intrac...	OMIM:614483
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, ...	ORPHA:438213
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Pleural effusion, Abnormality of the ovary, ...	ORPHA:314473
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Breast aplasia, Hypodontia, Hypoplastic nipple...	ORPHA:69085
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Hypoplasia of the corpus callosum, Abnormal pulmonary interstitial morphology, C...	ORPHA:2072
Neurocutaneous Melanocytosis	Meningocele, Dandy-Walker malformation, Death in infancy, Abnormality of neuronal migration, Chor...	ORPHA:2481
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla...	ORPHA:93296
Multiple Sulfatase Deficiency	Macrocephaly, Hydrocephalus, Anteverted nares, Broad thumb, Short stature, Microcephaly, Joint st...	ORPHA:585
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome...	ORPHA:2632
Stevenson-Carey Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Left superior vena cava draining to coronary s...	OMIM:611961
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Death in infancy, Slender finger, Cleft palate, Flexion...	OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Cerebellar hypoplasia, Encephalocele, Hydrocephalus, Type II lissencephaly, Death...	OMIM:613150
Auriculocondylar Syndrome 2A	Short mandibular rami, Macrocephaly, Mandibular condyle hypoplasia, Dental crowding, Temporomandi...	OMIM:614669
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Osteolysis, Abnormal hip bone morphology, Bone cyst,...	ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant	Tibial bowing, Femoral bowing, Enamel hypomineralization, Metaphyseal irregularity, Rickets, Fibu...	OMIM:307800
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Ascite...	OMIM:619487
Keppen-Lubinsky Syndrome	Postnatal growth retardation, Abnormally large globe, Narrow nasal bridge, Short philtrum, Promin...	ORPHA:435628
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, Di...	OMIM:259710
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Panhypopituitarism, Oligozoosperm...	ORPHA:91351
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Widely spaced teeth, Microcephaly, Arachnodactyly, Syndactyly, Hypertelorism, Clino...	OMIM:619092
Acrocapitofemoral Dysplasia	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy...	OMIM:607778
3Mc Syndrome	Postnatal growth retardation, Orofacial cleft, Caudal appendage, Spina bifida occulta, Bilateral ...	ORPHA:293843
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Anal stenosis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Aplasia...	OMIM:613686
Coach Syndrome 1	Stage 5 chronic kidney disease, Occipital encephalocele, Nephronophthisis, Vascular dilatation, U...	OMIM:216360
Curry-Jones Syndrome	Microphthalmia, Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Intestinal ma...	ORPHA:1553
3Mc Syndrome 1	Dental crowding, Microcephaly, Short 5th finger, Single interphalangeal crease of fifth finger, C...	OMIM:257920
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Long philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, O...	ORPHA:1974
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Noonan Syndrome 3	Short nose, Tricuspid valve prolapse, Patent ductus arteriosus, Anteverted nares, Patent foramen ...	OMIM:609942
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Everted lower lip vermilion, Decreased response to growth hormone stimulation te...	ORPHA:293987
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndacty...	ORPHA:2475
Tetragametic Chimerism	Clitoral hypertrophy, Perineal hypospadias, Ovotestis, Single transverse palmar crease, Bifid scr...	ORPHA:199310
Tetrasomy 18P	Short nose, Thin vermilion border, Narrow mouth, Microcephaly, Abnormality of neuronal migration,...	ORPHA:3307
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ...	ORPHA:1426
Myopathy With Extrapyramidal Signs	Encephalomalacia, Anteverted nares, Hypoplastic anterior limbs of the internal capsule, Increased...	OMIM:615673
Cooper-Jabs Syndrome	Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Antevert...	ORPHA:1488
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Toriello-Lacassie-Droste Syndrome	Epispadias, Short nose, Macrocephaly, Aganglionic megacolon, Hypospadias, Anteverted nares, Propt...	ORPHA:3339
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Microphthalmia, Renal Fanconi syndrome, Pathologic fracture, Joint hypermobility,...	OMIM:309000
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Trichohepatoenteric Syndrome 1	Proptosis, Pulmonic stenosis, Renal cortical microcysts, Bifid uvula, Wide mouth, Long philtrum, ...	OMIM:222470
Eec Syndrome	Proximal placement of thumb, Microdontia, Tooth agenesis, Split foot, Taurodontia, Decreased resp...	ORPHA:1896
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Primary hyperparathyr...	ORPHA:189427
Restrictive Dermopathy	Ureteral duplication, Temporomandibular joint ankylosis, Decreased skull ossification, Aplasia/Hy...	ORPHA:1662
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Microcephaly, Prominent interphalangeal joints, W...	OMIM:614609
Familial Chylomicronemia Syndrome	Jaundice, Acute pancreatitis, Decreased body weight, Failure to thrive, Hepatosplenomegaly, Recur...	ORPHA:444490
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Microcephaly, Achilles tendon contracture, Abnormal cerebral white matte...	ORPHA:370980
Congenital-Onset Steinert Myotonic Dystrophy	Macrocephaly, Decreased body weight, Enuresis, Obesity, Tented upper lip vermilion, Patent ductus...	ORPHA:589821
Short Stature With Microcephaly And Distinctive Facies	Hypoplasia of the corpus callosum, Osteopenia, Proximal placement of thumb, Anteverted nares, Pro...	OMIM:615789
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly,...	OMIM:619142
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis	ORPHA:99931
Citrullinemia Type Ii	Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Decreased bo...	ORPHA:247585
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur...	ORPHA:240
Alpha-Mannosidosis, Infantile Form	Proptosis, Joint stiffness, Disproportionate tall stature, Umbilical hernia, Joint hypermobility,...	ORPHA:309282
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Polymicrogyria, Cerebral calcification, Thin ribs, Pleural effusion, Gr...	OMIM:617397
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Maternal diabetes, Small epiphyses, Flared metaphysis, Hypoplast...	ORPHA:93346
Hypochondroplasia	Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo...	ORPHA:429
Panhypophysitis	Abnormal thalamic MRI signal intensity, Impotence, Abnormal posterior pituitary morphogenesis, De...	ORPHA:95513
Pituitary Adenoma 4, Acth-Secreting	Nephrolithiasis, Osteoporosis, Oligomenorrhea, Obesity, Pituitary adenoma, Abdominal obesity, Inc...	OMIM:219090
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Biliary hyperplasia, Microcephaly, Arachnodactyly, Contracture of the distal interp...	ORPHA:83617
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Disproportionate short-limb short stature, Short long bone, Short ribs, Cupped ribs, Metaphyseal ...	OMIM:250420
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Curry-Jones Syndrome	Microphthalmia, Megalencephaly, Intestinal pseudo-obstruction, Lipomyelomeningocele, Hemimegalenc...	OMIM:601707
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Obesity, Overwei...	ORPHA:26793
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e...	ORPHA:2050
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Wide nasal base, Spina bifida occulta, Abno...	ORPHA:488434
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microc...	ORPHA:364577
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
8Q12 Microduplication Syndrome	Vesicoureteral reflux, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, Atri...	ORPHA:228399
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Mandibular prognathia, M...	ORPHA:2252
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Crumpled long bones, Disproportionate short-limb short stature, ...	OMIM:166210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Microvesicular hepatic stea...	OMIM:619418
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Ovarian neoplasm, Proptosis, Precocious puberty, Weight loss, Metrorrha...	ORPHA:370348
Joubert Syndrome 16	Polydactyly, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Coloboma, Renal cyst, Hy...	OMIM:614465
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Genu valgum, Mandibular prognathia, Elbow flexion contracture, Short stature, Microcephaly, Hip c...	OMIM:618493
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Retinitis Pigmentosa	Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus, Male infertility, Immotile sperm	OMIM:614874
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Short ...	OMIM:271665
Acro-Renal-Ocular Syndrome	Microphthalmia, Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Crossed...	ORPHA:959
Osteootohepatoenteric Syndrome	Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Fail...	OMIM:619377
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Periodontitis, Hydrocephalus, Dandy-Walker ma...	ORPHA:722
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ...	OMIM:620294
Congenital Syphilis	Myocarditis, Periostitis, Large placenta, Pneumonia, Hyperplasia of the maxilla, Hydrocephalus, T...	ORPHA:499009
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Bilateral single transverse palmar creases, Abnormal morphology of the great ...	ORPHA:488642
Sickle Cell Disease	Hepatomegaly, Hematuria, Cholelithiasis, Splenomegaly, Cardiomegaly, Renal insufficiency	OMIM:603903
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Hydrocephalus, Proptosis, Microdontia, Communicating hy...	OMIM:112240
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm, Weight loss	ORPHA:2221
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias, Absent radius, Anal atresia	OMIM:312190
Pseudo-Torch Syndrome 3	Cardiomegaly, Acute kidney injury, Proteinuria	OMIM:618886
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion...	ORPHA:98855
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis	OMIM:619273
46,Xx Sex Reversal 5	Increased serum testosterone level, Urogenital sinus anomaly, Secundum atrial septal defect, Ambi...	OMIM:618901
Mgat2-Cdg	Osteopenia, Abnormality of the endocrine system, Low hanging columella, Progressive microcephaly,...	ORPHA:79329
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Disproportionate short-limb short stature, Short stature, Limb undergrow...	ORPHA:156728
Woolly Hair Nevus	Precocious puberty, Widely-spaced incisors, Brachydactyly	ORPHA:79414
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypoplasia of the corpus callosum, Large for gestational age, Macrocephaly, Deep palmar crease, C...	OMIM:607721
Mccune-Albright Syndrome	Intestinal polyposis, Craniofacial hyperostosis, Precocious puberty, Pituitary adenoma, Hyperthyr...	OMIM:174800
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	ORPHA:263455
Osteogenesis Imperfecta, Type X	Tibial bowing, Relative macrocephaly, Shallow orbits, Dentinogenesis imperfecta, Joint hypermobil...	OMIM:613848
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia...	OMIM:618325
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Abnormal circulating follicle-stimulating...	ORPHA:93325
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Hypotelorism, Cleft soft palate, Aortic rupture, Umbilical hernia, Large joint hyperm...	OMIM:614557
Monosomy 22	Retrognathia, Thin vermilion border, Clinodactyly of the 5th finger, Wide nose, Finger syndactyly...	ORPHA:96123
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Macrocephaly, Calvarial osteosclerosis, Flared metaphysis, Hydroce...	OMIM:259700
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Everted lower lip vermilion, Abnormal dental morphology, ...	ORPHA:2251
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma...	ORPHA:95512
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S...	OMIM:185900
Hereditary Mucoepithelial Dysplasia	Hematuria, Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Pulmonary fibrosis, R...	ORPHA:1839
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Patent ductus arteriosus, Mandibular prognathia, High palate, Gray matter heterotopia, Broad nasa...	OMIM:620475
Cat Eye Syndrome	Microphthalmia, Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Umbilical hernia,...	OMIM:115470
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Stillbirth, Radial club hand, Hydrocephalus, Anal atresia, Renal hypoplasia,...	OMIM:276950
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis of corpus c...	OMIM:617542
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Premature loss of permanent teeth, Ectopic kidn...	OMIM:212780
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Distal renal tubular acidosis, Hematuria, Aplasia of the vagina, Aplasia of t...	OMIM:146255
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Short philtrum, Hydrocephalus, Dandy-Walker malformation, Cerebral ca...	OMIM:617281
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Lacrimoauriculodentodigital Syndrome	Anosmia, Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hypoplasia of the radi...	ORPHA:2363
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Proptosis, Large iliac w...	OMIM:271640
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Chime Syndrome	Tall stature, Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of...	ORPHA:3474
Hartnup Disorder	Short stature, Glossitis, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria	OMIM:234500
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal obstruction, Male infertility, Primary testicular failure, Decreased glomerular filtra...	ORPHA:85450
Dyskeratosis Congenita, Autosomal Recessive 8	Hypotelorism, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Intrauterine gro...	OMIM:620133
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Stillbirth, Absent or minimally ossified vertebral bodies, Sho...	OMIM:600972
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Short statur...	ORPHA:3201
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:614858
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Vesicoureteral reflux, Narrow mouth, Arachnodactyly, Obesity, Prominent na...	ORPHA:261222
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Microphthalmia, Retrognathia, Anteverted nares, Growth delay, Hypoplasia of teeth, Mi...	OMIM:234050
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, De...	OMIM:600081
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Aminoaciduria, Renal tubular acidosis, Patent foramen ovale, Nephrogenic diabetes insipidus, Deat...	OMIM:208085
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Recurrent fractures, Tibial bowing, Mic...	ORPHA:453510
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Intrauter...	OMIM:270100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized...	OMIM:600785
Myoclonic-Astatic Epilepsy	Microphthalmia, Thick lower lip vermilion, Anteverted nares, Thick nasal alae, Microcephaly, Wide...	ORPHA:1942
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Male infertility, Reduced sperm motility, Immotile sperm, Polysplenia	OMIM:613807
Mandibuloacral Dysplasia	Postnatal growth retardation, Hyperinsulinemia, Abnormally large globe, Abnormal tongue morpholog...	ORPHA:2457
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Broad skull, Short metacarpal, Broad metatarsal, Shallow orbits, Pulm...	OMIM:608328
Galloway-Mowat Syndrome 7	Microcephaly, Arachnodactyly, Stage 5 chronic kidney disease, Clinodactyly, Focal segmental glome...	OMIM:618348
Holt-Oram Syndrome	Atrioventricular canal defect, Triphalangeal thumb, Abnormal metacarpal morphology, Patent ductus...	ORPHA:392
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Ectopic anus, Abnormal rib morphol...	ORPHA:2345
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick lower lip vermilion, Anteverted nares, Narrow mouth, Gray matter heterotopia, Obesity, Thic...	OMIM:608624
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormal intestine morphology, Bowing of the long bones, Abnormally...	ORPHA:1318
Multiple Osteochondromas	Intestinal obstruction, Cervical myelopathy, Abnormal femur morphology, Limitation of knee mobili...	ORPHA:321
Tay-Sachs Disease	Limited elbow extension, Abnormal thalamic MRI signal intensity, Global brain atrophy, Distal upp...	ORPHA:845
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive	OMIM:210200
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Tall stature, Megalencephaly, Macrocephaly, Mandibular prognathia, Pro...	OMIM:617011
Thrombocytopenia 6	Hypotelorism, Spontaneous, recurrent epistaxis, Myelofibrosis, Osteoporosis, Deeply set eye	OMIM:616937
Neurocardiofaciodigital Syndrome	Polydactyly, Retrognathia, Hypoplasia of the corpus callosum, Thin vermilion border, Double inlet...	OMIM:619869
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Absent outer dynein arms, Male infertility, Atelectasis, Absent frontal s...	OMIM:244400
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Diaphragmatic Hernia 4, With Cardiovascular Defects	Macrocephaly, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Optic nerve hy...	OMIM:620025
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Abnormality of the upper limb, Microcephaly, Abnormal heart m...	ORPHA:124
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Synostosis ...	ORPHA:1005
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia, Microcephaly, Syndactyly, Cerebellar hypoplasia, Deeply set ey...	OMIM:618087
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Abnormality of the dentition, Biparietal narrowing, Short stature, Microcephaly, ...	ORPHA:261190
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr...	OMIM:614924
Jansen-De Vries Syndrome	Anteverted nares, Short stature, Thin upper lip vermilion, Wide mouth, Brachydactyly, Bicuspid ao...	OMIM:617450
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Cerebral calcification, Renal...	OMIM:219800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Thin ribs, Aplasia of the uterus, Short ribs, Missing ribs, Rib fusion, An...	OMIM:271520
Orofaciodigital Syndrome Type 5	Microcephaly, Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglioni...	ORPHA:2919
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Dural Sinus Malformation	Cerebellar hemorrhage, Macrocephaly, Vascular dilatation, Hydrocephalus, Arteriovenous fistula, A...	ORPHA:97339
X-Linked Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion...	ORPHA:98853
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Impotence, Mild fetal ventriculomegaly, Abnormality of the tongue ...	ORPHA:273
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Cerebral cortical atrophy, Microcephaly, Intrauterine growth retardation	ORPHA:291
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal palate morphology, Hydrocephalus, Bone cyst, Narrow iliac wing, Bilateral cryptorchidism...	ORPHA:3042
Polysyndactyly With Cardiac Malformation	Stillbirth, Anteverted nares, Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial ...	OMIM:263630
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperostosis frontalis interna, Osteoporosis, Hypothyroidism...	ORPHA:77296
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Weill-Marchesani Syndrome 1	Broad skull, Broad metatarsal, Shallow orbits, Pulmonic stenosis, Aortic valve stenosis, Joint st...	OMIM:277600
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transam...	ORPHA:99901
Sotos Syndrome	Tall stature, Ureteral duplication, Agenesis of permanent teeth, Abnormal heart morphology, Conge...	ORPHA:821
Acrocapitofemoral Dysplasia	Macrocephaly, Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short palm, Cone-s...	ORPHA:63446
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Pelvic kidney, Dilatation of renal calices, Short palm, Obesity,...	ORPHA:466943
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Rickets, Steatorrhea, Recurrent aphthous stomatiti...	OMIM:212750
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Hydrocephalus, Pelvic kidney, Anal atresia, Growth delay, Micro...	OMIM:617244
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Postnatal growth retardation, Spontaneous neonatal pneumothorax, Recurrent mandibular subluxation...	OMIM:225410
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Unilateral renal agenesis, Anteverted nares, Communicating hydrocephalus, Short stature...	ORPHA:1064
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Disproportionate short-limb short stature, Metaphyseal cupping, Bowin...	ORPHA:85166
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Horseshoe kidney, Ventricular septal defect, Intrauterine...	ORPHA:1724
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hydrocephalus, Polymicrogyria, Cerebral calcification, Cerebel...	ORPHA:157
Multiple Sulfatase Deficiency	Cerebral atrophy, Hydrocephalus, Anteverted nares, Increased CSF protein concentration, Abnormal ...	OMIM:272200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c...	OMIM:618395
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Delayed eruption of teeth, Deeply set eye, Tongue atr...	OMIM:141300
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic...	ORPHA:541423
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Supernumerary tooth, High, narrow palate, Spina bifida occulta, Finger synd...	ORPHA:1787
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit...	OMIM:615925
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Congenital finger flexion contractures, Limited knee extension, Arachn...	OMIM:121050
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, Mandibular prognathia, High pa...	ORPHA:710
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Umbilical hernia, Metaphyseal irregularity, Prominent de...	OMIM:619636
Leber Congenital Amaurosis	Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration, Encephalocele	ORPHA:65
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Cerebral calcification, Testicular atrophy, Oral leukoplakia	OMIM:613987
Tolchin-Le Caignec Syndrome	Clinodactyly of the 5th finger, Cardiac rhabdomyoma, High palate, Narrow mouth, Precocious pubert...	OMIM:618971
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Polymicrogyria, High palate, Failure to thrive, Syndactyly, Umbilical ...	OMIM:614520
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Hypoplasia of the primary teeth, Primary hypothyroidism, Severe intrauterin...	OMIM:243800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormality of the philtrum, Choanal atresia, Abnormal rib morpho...	ORPHA:2759
Oculodentodigital Dysplasia	Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Microcep...	OMIM:164200
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Tracheomala...	ORPHA:1393
Cantú Syndrome	Abnormal metaphysis morphology, Long philtrum, Macrocephaly, Patent ductus arteriosus, Short hall...	ORPHA:1517
Joubert Syndrome 30	Polymicrogyria, Dandy-Walker malformation, Postaxial hand polydactyly, Gray matter heterotopia, A...	OMIM:617622
Diets-Jongmans Syndrome	Hypospadias, Low hanging columella, Duodenal atresia, Ventricular septal defect, Thick corpus cal...	OMIM:618846
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Depressed nasal ridge, Communicating hydrocephalus, Short stature...	ORPHA:1861
Mogs-Cdg	External genital hypoplasia, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Card...	ORPHA:79330
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Proximal placement of thumb, Esophageal atresia, Anteverted nares, Progressive microc...	OMIM:610536
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Hepatic steatosis	OMIM:614922
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic ki...	ORPHA:2237
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly, Cleft upper lip, Cleft palate, Intracranial hemorrhage	ORPHA:398189
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Talipes...	ORPHA:496689
Schisis Association	Anencephaly, Encephalocele, Anal atresia, Micromelia, Spina bifida, Microcephaly, Tracheoesophage...	ORPHA:63862
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short stature, Microgna...	ORPHA:1514
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:212138
Orofaciodigital Syndrome Iv	Cerebral atrophy, Short finger, Hamartoma of tongue, Short tibia, Tongue nodules, Porencephalic c...	OMIM:258860
Congenital Analbuminemia	Small for gestational age, Obesity, Lipodystrophy	ORPHA:86816
Klippel-Trénaunay Syndrome	Tall stature, Macrocephaly, Abnormal tricuspid valve morphology, Hematuria, Venous insufficiency,...	ORPHA:90308
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Cerebral atrophy, Macular coloboma, Periventricular white matter hyperintensities, Hemolytic-urem...	ORPHA:79282
Proteasome-Associated Autoinflammatory Syndrome 1	Flexion contracture of toe, Proptosis, Death in adolescence, Recurrent sinusitis, Flexion contrac...	OMIM:256040
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr...	ORPHA:457083
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Microcephaly, Absent thumb, Hypoplastic sacral ver...	OMIM:105650
Pmm2-Cdg	Retrognathia, Pericarditis, Wide mouth, Multiple renal cysts, Joint hypermobility, Impaired neutr...	ORPHA:79318
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Fa...	OMIM:614736
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Lymphangioleiomyomatosis	Pneumothorax, Emphysema, Atelectasis, Recurrent respiratory infections, Chylopericardium, Hydroce...	ORPHA:538
Neural Tube Defects, Susceptibility To	Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Absence...	OMIM:182940
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Joint hypermobility, Abnormality of the urethra, Abnormal metacarpa...	ORPHA:2907
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Macrocephaly, Patent ductus arteriosus, High palate, Choanal atresia, Short stature...	ORPHA:52055
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Anteverted nares, Short ribs, Prop...	ORPHA:2021
Krabbe Disease	Hydrocephalus, Failure to thrive, Diffuse cerebral atrophy, Increased CSF protein concentration	OMIM:245200
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Absent outer dynein arms, Male infertility, Pneumonia, Chronic rhinitis, ...	OMIM:612444
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Anencephaly, Hypospadias, Hydrocephalus, Cle...	OMIM:313850
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens	ORPHA:48
Leri-Weill Dyschondrosteosis	Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry...	OMIM:127300
Faundes-Banka Syndrome	Delayed puberty, Flexion contracture of toe, Premature thelarche, Bulbous nose, Failure to thrive...	OMIM:619376
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Seve...	ORPHA:168555
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Gaucher Disease	Delayed puberty, Death in infancy, Joint stiffness, Pathologic fracture, Ventriculomegaly, Osteol...	ORPHA:355
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Nephrogenic diabetes insipidus, Death in infancy, Failure to thrive, Micr...	OMIM:613404
Hennekam Syndrome	Retrognathia, Arteriovenous malformation, Ectopic kidney, Tooth agenesis, Craniosynostosis, Short...	ORPHA:2136
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uterus, Bifid uvula, Cleft palate, Unilater...	ORPHA:2736
Fanconi-Bickel Syndrome	Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, Abnormal hepatic glyc...	ORPHA:2088
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, In...	ORPHA:98907
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Dis...	ORPHA:3144
Narcolepsy 7	Obesity	OMIM:614250
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Death in childhood, Rectal atresia, Intestinal atresia, Ve...	OMIM:243150
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:212065
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Failure to thrive, Hepatomegaly, Diffuse hepatic steatosis	ORPHA:436271
Loeys-Dietz Syndrome	Orofacial cleft, Tall stature, Vascular dilatation, Arterial tortuosity, Aortic aneurysm, High pa...	ORPHA:60030
Blue Diaper Syndrome	Increased body weight, Elevated circulating hepatic transaminase concentration	ORPHA:94086
Microsporidiosis	Myocarditis, Urethritis, Adrenocortical abnormality, Prostatitis, Pneumonia, Abnormal fallopian t...	ORPHA:2552
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism, Abnormality of bone mineral density	ORPHA:1114
Warsaw Breakage Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-...	OMIM:613398
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th...	OMIM:102510
Diarrhea 10, Protein-Losing Enteropathy Type	Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Protein-losing enteropa...	OMIM:618183
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Proptosis, Glossoptosis, Micromelia, Dumbbell-shaped long bone, Micro...	ORPHA:440354
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis	OMIM:231680
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Failure to thrive, Achilles tendon contracture, Exocrine pancreatic insufficiency, ...	OMIM:616263
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Toe syndactyly, Brac...	ORPHA:1319
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa...	OMIM:617156
Ciliary Dyskinesia, Primary, 20	Absent outer dynein arms, Situs inversus totalis, Atelectasis, Dextrocardia, Bronchiectasis, Aort...	OMIM:615067
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Talon cusp, Microdontia,...	OMIM:605282
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Retrognathia, Osteopenia, Hiatus hernia, Osteomalacia, Esophagitis, Osteoporosis, Coxa v...	ORPHA:1901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic necrosis, Acu...	ORPHA:71212
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Vaginal hernia, Hypoplasia of ...	ORPHA:96129
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, 2-3 finger syndactyly, Patent ductus arteriosus, Hamartoma of tongue, Subvalvular...	ORPHA:1338
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Thick corpus callosum, Short stature, Simplified gyral pattern, Cer...	OMIM:618273
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Microcephaly, Short humerus, ...	OMIM:117650
17Q11 Microdeletion Syndrome	Delayed puberty, Pheochromocytoma, Proptosis, Gastrointestinal stroma tumor, Pulmonic stenosis, A...	ORPHA:97685
Saethre-Chotzen Syndrome	Long nose, Shallow orbits, Abnormal heart morphology, Partial duplication of the distal phalanx o...	OMIM:101400
Spondylo-Ocular Syndrome	Long philtrum, Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Osteoporosi...	ORPHA:85194
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro...	OMIM:261515
Pyruvate Dehydrogenase E1-Beta Deficiency	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Cerebellar hypoplasia, Corticosp...	ORPHA:255138
Pontocerebellar Hypoplasia, Type 8	Hypoplasia of the corpus callosum, Secondary microcephaly, Anteverted nares, Patent foramen ovale...	OMIM:614961
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen...	OMIM:207950
Autosomal Recessive Spastic Paraplegia Type 11	Hypoplasia of the corpus callosum, Focal T2 hyperintense basal ganglia lesion, Frontal cortical a...	ORPHA:2822
Stickler Syndrome	Reduced bone mineral density, Cachexia, Proptosis, Glossoptosis, Tooth agenesis, Arachnodactyly, ...	ORPHA:828
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Vascular dilatation, Ectopic kidney, Hydrocephalus, Forearm undergrowth, Bo...	OMIM:602200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Short long bone, Femoral bowing, Relative macrocephaly...	OMIM:618019
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia, Clinodactyly of the 5th finger, Wide nose, Severe postn...	ORPHA:2399
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Coarctation of aorta, Tetr...	ORPHA:261243
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Biparietal narrowing, Short stature, Micr...	ORPHA:2518
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi...	ORPHA:2476
Ramos-Arroyo Syndrome	Deviated nasal septum, Severe failure to thrive, Aganglionic megacolon, Smooth tongue, Anteverted...	ORPHA:1051
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:610717
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Optic nerve hypoplasia, Microcephaly, Bifid uvula, Umbilical hernia, Small scrotum, J...	OMIM:620330
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Pancreatic aplasia, Pulmonic stenosis, Intestinal malrotation, Umbilical he...	ORPHA:2255
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Reduced bone mineral density, Arteriovenous malformation, Finger syndactyly, Abn...	ORPHA:1556
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cholelithiasis, Short stature, Failure to thrive, Epistaxis, Fat malabsorption	OMIM:211600
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Mucopolysaccharidosis Type 2	Temporomandibular joint ankylosis, Cardiomyopathy, Abnormal epiphyseal ossification, Abnormal mit...	ORPHA:580
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Auriculocondylar Syndrome 4	Narrow mouth, Micrognathia, Cleft palate, Glossoptosis	OMIM:620457
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, Coloboma, High palate, Intrauterine growth r...	ORPHA:1297
Diamond-Blackfan Anemia 7	Osteopenia, Triphalangeal thumb, Vesicoureteral reflux, Choanal atresia, Osteoporosis, Esophagiti...	OMIM:612562
Orofaciodigital Syndrome Type 3	Hamartoma of tongue, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Postaxial hand poly...	ORPHA:2752
Dysosteosclerosis	Abnormal metaphysis morphology, Macrocephaly, Craniofacial hyperostosis, Delayed eruption of teet...	ORPHA:1782
Peripartum Cardiomyopathy	Left atrial enlargement, Myocarditis, Abnormality of thyroid physiology, Abnormal atrioventricula...	ORPHA:563
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Short long bone, Flat acetabular roof, Abno...	ORPHA:94068
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Macrocephaly, Corticospinal tract hypoplasia, Hydrocephalus, Thumb contractu...	OMIM:307000
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Sandal gap, Single transverse palmar crease,...	OMIM:614800
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Recurrent viral upper respiratory tract infections, Everted lower lip vermilion, ...	OMIM:616898
Incontinentia Pigmenti	Orofacial cleft, Microphthalmia, Spina bifida occulta, Delayed eruption of teeth, Finger syndacty...	ORPHA:464
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Macrocephaly, Reduced bone mineral density, Delaye...	ORPHA:667
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxill...	OMIM:616367
Goldberg-Shprintzen Syndrome	Hypoplasia of the corpus callosum, Aganglionic megacolon, Clinodactyly of the 5th finger, Short p...	OMIM:609460
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Macrocephaly, Patent ductus arteriosus, Hiatus hernia, Dental crowding, Persistence of primary te...	OMIM:619769
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Hypophosphatemic Rickets, X-Linked Recessive	Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Metaphyseal irregularity, ...	OMIM:300554
Oculocerebral Hypopigmentation Syndrome, Preus Type	Reduced bone mineral density, Abnormal hip bone morphology, Hydrocephalus, High palate, Short sta...	ORPHA:2720
Fucosidosis	Mucopolysacchariduria, Hepatomegaly, Cardiomegaly	ORPHA:349
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ...	ORPHA:157215
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Osteopetrosis, Cavum septum pelluci...	OMIM:617306
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca...	ORPHA:57777
Dent Disease 1	Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Metaphyseal irregularity, ...	OMIM:300009
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepati...	OMIM:611126
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Rectovaginal fistula, Short philtrum, Short lingual frenulum, Ebstein ...	OMIM:608980
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Hydrocephalus, Abnormal dental enamel morphology, Yellow-brown discolora...	ORPHA:1946
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy...	ORPHA:64754
Microtia	Holoprosencephaly	ORPHA:83463
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla...	ORPHA:2098
Generalized Pustular Psoriasis	Obesity, Overweight, Elevated circulating hepatic transaminase concentration	ORPHA:247353
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Keutel Syndrome	Wide nose, Underdeveloped nasal alae, Short stature, Pulmonary artery stenosis, Recurrent sinusit...	ORPHA:85202
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Postnatal growth retardation, Thin vermilion border, 2-3 toe cutaneous syndactyly, Anal stenosis,...	OMIM:620029
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Osteopetrosis, Autosomal Recessive 7	Increased head circumference, Femur fracture, Osteopetrosis, Death in childhood, Hydrocephalus, P...	OMIM:612301
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Hydrocephalus, Gray matter heterotopia, Postaxial polydactyly, Ventriculomeg...	OMIM:219730
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Malar f...	ORPHA:166100
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, T...	ORPHA:261272
Cryptococcosis	Prostatitis, Hydrocephalus, Pleural effusion, Cerebral cortical atrophy, Cerebral edema, Osteomye...	ORPHA:1546
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification	ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, ...	OMIM:253280
Camptobrachydactyly	Urinary incontinence, Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndac...	OMIM:114150
Cystinosis	Delayed puberty, Rickets, Nephropathy, Nephrogenic diabetes insipidus, Hypothyroidism, Short stat...	ORPHA:213
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du...	ORPHA:1836
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Limb-Mammary Syndrome	Hypoplastic nipples, Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly...	OMIM:603543
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Thin vermilion border, Disproportionate short-limb short stature, F...	OMIM:602557
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Neuronal loss in the cerebra...	OMIM:301072
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy	OMIM:619259
Chromosome 1P36 Deletion Syndrome, Proximal	Bifid nasal tip, Pulmonic stenosis, Microcephaly, Bicuspid aortic valve, Clinodactyly, Coronary a...	OMIM:619343
Neurofibromatosis, Type I	Aqueductal stenosis, Genu valgum, Macrocephaly, Hydrocephalus, Pheochromocytoma, Renal artery ste...	OMIM:162200
Charcot-Marie-Tooth Disease, Type 4B3	Microcephaly, Urinary incontinence, Syndactyly	OMIM:615284
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Poland Syndrome	Hypoplasia of deltoid muscle, Dextrocardia, Short ribs, Unilateral oligodactyly, Syndactyly, Rib ...	OMIM:173800
Leigh Syndrome	Abnormal thalamic MRI signal intensity, 3-Methylglutaconic aciduria, Generalized aminoaciduria, C...	ORPHA:506
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon...	OMIM:143095
Fructose-1,6-Bisphosphatase Deficiency	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:348
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrocephaly, Short metacarpal, Renal cyst, Short stature, Broad columella, Micrognathia, Metaphy...	OMIM:250410
Multiple Endocrine Neoplasia Type 2	Elevated urinary vanillylmandelic acid, Pheochromocytoma, Elevated urinary epinephrine level, Dis...	ORPHA:653
Lesch-Nyhan Syndrome	Podagra, Nephrolithiasis, Short stature, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy, H...	OMIM:300322
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, J...	ORPHA:2249
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Narrow palate, Abnormal hip bone morphology, Finger syndactyly, Proptosis, Synostosis of carpal b...	ORPHA:1323
Radio-Renal Syndrome	Hypoplasia of the radius, Retrognathia, High, narrow palate, Chylothorax, Pleural effusion, Abnor...	ORPHA:3015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, C...	OMIM:616538
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Failure to thrive, Increased intramyocellular lipid dropl...	OMIM:220110
Alzahrani-Kuwahara Syndrome	Long philtrum, Hypospadias, Cavum septum pellucidum, Hypodontia, Narrow philtrum, Patent foramen ...	OMIM:619268
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Mandibular prognathia, Relative macrocephaly, Broa...	OMIM:612813
Grange Syndrome	Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect, I...	ORPHA:79094
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Ventricular hypertrophy, Proptosis, Tortuous cerebral arteries...	OMIM:613795
Syndromic Diarrhea	Villous atrophy, Gastritis, Small for gestational age, Polycystic kidney dysplasia, Peripheral pu...	ORPHA:84064
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Male infertility, Nasal polyposis, Bronchiectasis, Rhinitis, Recurrent si...	OMIM:614935
Tuberous Sclerosis 1	Adenoma sebaceum, Cardiac rhabdomyoma, Gingival fibromatosis, Subependymal nodules, Cerebral calc...	OMIM:191100
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Retrognathia, Macrocephaly, Deep palmar crease, Uraciluria, Delayed eruption of...	ORPHA:1675
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Microcephaly, Tricuspid atresia, Antevert...	OMIM:164280
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Polyuria, Death in childhood, Proximal tubulopathy, Death in adolescence, Osteoporosis, ...	OMIM:560000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ...	OMIM:613154
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Wide nose, Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus,...	ORPHA:2184
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Intrauterine growth retardation, Elbow flexion contracture, Abnorm...	ORPHA:3206
Nephrotic Syndrome, Type 11	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, High palate, Focal segmental g...	OMIM:616730
Astley-Kendall Dysplasia	Micromelia, Disproportionate short-limb short stature, Epiphyseal stippling	ORPHA:85175
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Recurr...	OMIM:617091
Geleophysic Dysplasia 3	Limited elbow movement, Long philtrum, Anteverted nares, Epiphyseal dysplasia, Short stature, Lim...	OMIM:617809
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Arima Syndrome	Tubulointerstitial fibrosis, Wide mouth, Renal sodium wasting, Stage 5 chronic kidney disease, Ne...	OMIM:243910
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary ...	ORPHA:99889
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Griscelli Syndrome	Hydrocephalus, Pyloric stenosis, Encephalocele, Short stature	ORPHA:381
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Thiamine-Responsive Megaloblastic Anemia Syndrome	Stroke, Ventricular septal defect, Short stature, Atrial septal defect, Diabetes mellitus	ORPHA:49827
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Cushing Disease	Amenorrhea, Secondary amenorrhea, Stroke, Increased urinary cortisol level, Increased body weight...	ORPHA:96253
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Wide nose, Rectal atresia, Narrow mouth, Hypoplasia of...	OMIM:617666
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma, Death in infancy	OMIM:249400
Cornelia De Lange Syndrome 6	Hypoplasia of the corpus callosum, Short nose, Long philtrum, Atrioventricular canal defect, Clin...	OMIM:620568
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Angulated humerus, Recurrent fractures, Short long bone, Bowing of the lo...	OMIM:616229
Hereditary Cryohydrocytosis With Reduced Stomatin	Postnatal growth retardation, Macrocephaly, Intracerebral periventricular calcifications, Decreas...	ORPHA:168577
Plasminogen Deficiency, Type I	Duodenal ulcer, Macrocephaly, Periodontitis, Hydrocephalus, Dandy-Walker malformation, Gingival o...	OMIM:217090
Intrahepatic Cholestasis Of Pregnancy	Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age	ORPHA:69665
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Orofaciodigital Syndrome Xvi	Retrognathia, Postaxial hand polydactyly, Gray matter heterotopia, Postaxial foot polydactyly, Ve...	OMIM:617563
Mitochondrial Trifunctional Protein Deficiency	Chronic hepatic failure, Cholestasis, Left ventricular hypertrophy, Failure to thrive in infancy,...	ORPHA:746
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Hypoplasia of the pons, Secundum ...	OMIM:619909
Liver Disease, Severe Congenital	Left atrial enlargement, Macrocephaly at birth, Narrow nasal ridge, Proptosis, Biliary hyperplasi...	OMIM:619991
Neonatal Lupus Erythematosus	Macrocephaly, Hydrocephalus, Abnormal heart morphology, Abnormal cerebral white matter morphology...	ORPHA:398124
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Nijmegen Breakage Syndrome	Retrognathia, Anal stenosis, Cachexia, Pollakisuria, Non-midline cleft of the upper lip, Anal atr...	ORPHA:647
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis...	OMIM:236700
Schizophrenia 1	Ectopic kidney, Short stature, Syndactyly, Short proximal phalanx of the 4th toe, Hypertelorism	OMIM:181510
Adiposis Dolorosa	Obesity	ORPHA:36397
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Macrocephaly, Polycystic kidney dysplasia, Cardiomyopathy, Gray matter heterot...	ORPHA:26791
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Occipital Horn Syndrome	Cerebral calcification, Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint ...	ORPHA:198
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Subependymal nodules, Pheochromocytoma, Pituitary adenoma, Parathyroid adeno...	ORPHA:805
Pontocerebellar Hypoplasia, Type 1B	Cerebral atrophy, Progressive microcephaly, Tongue fasciculations, Growth delay, Flexion contract...	OMIM:614678
Eem Syndrome	Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno...	ORPHA:1897
Epidermolysis Bullosa, Junctional 1B, Severe	Death in infancy, Pyloric stenosis, Enamel hypoplasia, Carious teeth, Failure to thrive, Syndactyly	OMIM:226700
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentrati...	ORPHA:31
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Gray Platelet Syndrome	Epistaxis, Abnormality of the menstrual cycle	ORPHA:721
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Microcolon, Pulmonic stenosis, Microcephaly, Intestinal malrotation, Umbili...	OMIM:600001
Marcus-Gunn Syndrome	Postnatal growth retardation, Coloboma, Choanal atresia, Nephrolithiasis, Abnormal heart morpholo...	ORPHA:91412
Cerebral Visual Impairment	Ischemic stroke, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Abnormal cerebral white mat...	ORPHA:447788
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Amenorrhea, Reduced bone mi...	ORPHA:652
Lysosomal Acid Lipase Deficiency	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Micr...	ORPHA:275761
Penile Agenesis	Tracheoesophageal fistula, Cystic renal dysplasia, Cryptorchidism, Bilateral renal hypoplasia, Ur...	ORPHA:49
Weill-Marchesani Syndrome	Limitation of joint mobility, Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thum...	ORPHA:3449
Xq21 Microdeletion Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior hyp...	ORPHA:1435
Cardiofaciocutaneous Syndrome 3	Reduced bone mineral density, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Fail...	OMIM:615279
Kawasaki Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Cheilitis, Recurrent pharyngitis, Glossi...	ORPHA:2331
Auriculocondylar Syndrome 1	Macrocephaly, Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Dental crowding, Gl...	OMIM:602483
Monosomy 22Q13.3	Macrocephaly, Clinodactyly of the 5th finger, Dental malocclusion, Dental crowding, Vesicouretera...	ORPHA:48652
Familial Multiple Lipomatosis	Hypoplasia of the corpus callosum, Premature eruption of permanent teeth, Macrocephaly, Abnormal ...	ORPHA:199276
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Single transverse palmar crease, Increased CSF lactate, Short sta...	OMIM:614947
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:308552
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Incr...	ORPHA:98908
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Absent outer dynein arms, Dextrocardia, Nasal congestion, Nasal polyposis...	OMIM:616037
Short Stature And Facioauriculothoracic Malformations	High palate, Proportionate short stature, Microcephaly, Cleft upper lip, Cleft palate, Cervical r...	OMIM:609654
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Death in early adulthood, Femoral retroversion, Hypoplastic scapulae, Micromelia...	ORPHA:79107
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Gray matter heterotopia, Abnormal periven...	OMIM:615960
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Tarsal synostosis, Elbow flexion contracture, Long nasal bridge, Camptodactyly, Arthrogryposis mu...	OMIM:178110
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Cryptorchidism, Hepatomegaly	OMIM:618143
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis, Proportionate short stature, Micromelia	ORPHA:93283
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Hypoplasia of the radius, Microphthalmia, Ectopic kidney, Unilatera...	OMIM:610832
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Syndactyly, Brachydact...	OMIM:616589
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality...	ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigment...	OMIM:610489
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Tall stature, Macrocephaly, Coloboma, Overgrowth, Renal cyst, Retinal ...	OMIM:617107
Chand Syndrome	Atelectasis, Hydroureter, Agenesis of maxillary incisor, Short fifth metatarsal, Imperforate hyme...	ORPHA:1401
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
X-Linked Cerebral Adrenoleukodystrophy	Memory impairment, Confusion, Short attention span, Abnormal spinal cord morphology, Myelopathy, ...	ORPHA:139396
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Elevated circulating hepatic transaminase concentration	ORPHA:445038
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Disproportionate short stature, Generalized bone demineralization, Flared met...	ORPHA:93352
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy	OMIM:158900
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis, Overlappi...	OMIM:614262
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Mesomelia-Synostoses Syndrome	Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar deviation of the ...	OMIM:600383
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Finger syndactyly, Bilateral cleft palate, Anal atresia, Carious teeth, Hypertelorism	ORPHA:1997
Truncus Arteriosus	Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauter...	ORPHA:3384
Alagille Syndrome 1	Long nose, Short distal phalanx of finger, Stage 5 chronic kidney disease, Hypoplasia of the ulna...	OMIM:118450
Interstitial Cystitis	Abnormal labia morphology, Abnormal vagina morphology, Pollakisuria, Dysuria, Dyspareunia, Urinar...	ORPHA:37202
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti...	ORPHA:2167
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Townes-Brocks Syndrome 2	Hypospadias, Spina bifida occulta, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bif...	OMIM:617466
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Coloboma, Short long...	ORPHA:85167
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi...	OMIM:300868
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Mandibular prognathia, Relative macrocephaly, Broad thumb, Mesomelia, Brachydactyly, ...	ORPHA:171866
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Diamond-Blackfan Anemia 5	Short stature, Hypertelorism, Ventricular septal defect, Hypospadias	OMIM:612528
Glutaric Acidemia I	Glutaric aciduria, Macrocephaly, Hydrocephalus, Failure to thrive, Lateral ventricle dilatation, ...	OMIM:231670
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit...	ORPHA:20
Kyphomelic Dysplasia	Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Bowed humer...	OMIM:211350
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Macrocephaly, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phala...	OMIM:601356
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Elevated circulating parathyroid hormone level, Macrocephaly, Hypophosphatemic rickets, ...	OMIM:612089
Craniotubular Dysplasia, Ikegawa Type	Long philtrum, Diaphyseal dysplasia, Macrocephaly, Thick lower lip vermilion, Anteverted nares, P...	OMIM:619727
Fanconi Renotubular Syndrome 2	Rickets, Osteopenia, Elevated circulating parathyroid hormone level, Decreased glomerular filtrat...	OMIM:613388
Slc39A8-Cdg	Osteopenia, Disproportionate short-limb short stature, Craniosynostosis, Increased CSF lactate, E...	ORPHA:468699
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Anal atresia, Aplasia/hypoplasia of the uterus, U...	ORPHA:411709
Pituitary Carcinoma	Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ...	ORPHA:300385
Periventricular Nodular Heterotopia	Aortic aneurysm, Abnormal heart valve morphology, Shoulder dislocation, Pyloric stenosis, Patent ...	ORPHA:98892
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Flexion...	ORPHA:17
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly...	ORPHA:1071
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Elevated c...	OMIM:277900
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thri...	ORPHA:14
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Fructose Intolerance, Hereditary	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Failu...	OMIM:229600
Sturge-Weber Syndrome	Macrocephaly, Hydrocephalus, Cerebral calcification, Stroke, Hyperostosis, Gingival overgrowth, C...	ORPHA:3205
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc...	ORPHA:227
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Microdontia, Short sternum, Bifi...	OMIM:258850
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis	OMIM:615862
Cronkhite-Canada Syndrome	Macrocephaly, Intestinal polyposis, Stomach cancer, Cachexia, Furrowed tongue, Hamartomatous poly...	ORPHA:2930
Cystic Fibrosis	Pneumothorax, Absent vas deferens, Male infertility, Decreased body mass index, Osteopenia, Recur...	ORPHA:586
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Central diabetes insipidus, Abnormal pulmonary interstitial morphology, Xerostomia, H...	ORPHA:227982
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Phace Syndrome	Abnormal carotid artery morphology, Microphthalmia, Iris coloboma, Aortic root aneurysm, Optic ne...	ORPHA:42775
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis, Flexion contracture	OMIM:616271
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Truncal obesity	OMIM:615812
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Central diabetes insipidus, Abnormal pulmonary interstitial morphology, Xerostomia, H...	ORPHA:227990
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Wide nose, Underdeveloped nasal alae, Osteoporosi...	OMIM:619525
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	ORPHA:247598
Peroxisome Biogenesis Disorder 13A (Zellweger)	Dicarboxylic aciduria, Polymicrogyria, Gray matter heterotopia, Micrognathia, Neonatal death, Wid...	OMIM:614887
L1 Syndrome	Hydrocephalus, Aqueductal stenosis, Adducted thumb, Aganglionic megacolon	ORPHA:275543
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Alg11-Cdg	Cerebral atrophy, Retrognathia, Cerebral white matter atrophy, Gray matter heterotopia, Microceph...	ORPHA:280071
Glutaryl-Coa Dehydrogenase Deficiency	Increased head circumference, Abnormal putamen morphology, Glutaric aciduria, Progressive macroce...	ORPHA:25
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Pericallosal lipoma, Hyp...	ORPHA:306542
Tuberous Sclerosis 2	Adenoma sebaceum, Absence of renal corticomedullary differentiation, Cardiac rhabdomyoma, Gingiva...	OMIM:613254
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Cryptorchidism, Rectoperineal fistula, Coarctation of aorta, Tetralogy of F...	OMIM:618748
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Broad thumb, ...	ORPHA:2001
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
X-Linked Agammaglobulinemia	Arthritis, Glossoptosis, Short stature, Abnormal lung morphology, Sinusitis, Recurrent pneumonia,...	ORPHA:47
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste...	ORPHA:404454
Lipoid Proteinosis	Thick lower lip vermilion, Cerebral calcification, High palate, Nasal polyposis, Abnormality of t...	ORPHA:530
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Recurrent pharyngitis, Decreased circulati...	ORPHA:293978
Immunodeficiency 87 And Autoimmunity	Jaundice, Hepatomegaly, Cholestasis, Ascites, Elevated circulating alanine aminotransferase conce...	OMIM:619573
Transketolase Deficiency	Increased level of ribose in urine, Secondary amenorrhea, Patent foramen ovale, Renal cyst, Propo...	ORPHA:488618
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho...	ORPHA:2634
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Hydrocephalus, Vesicoureteral reflux, Pyloric stenosis, Bi...	ORPHA:1571
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Hydrocephalus, Stroke, Abnormal periventricular white matter morphology, Microcep...	ORPHA:395
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large for gestational age, Large placenta, Overgrowth, Coat hanger ...	ORPHA:254534
Blepharocheilodontic Syndrome 2	Conical tooth, Cutaneous syndactyly, Tooth agenesis, Cleft lip, Hypertelorism	OMIM:617681
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Mesomelic short stature, Metatarsus adductus, Short stature, Meso...	OMIM:163400
Phace Association	Microphthalmia, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Dandy-Walker malfor...	OMIM:606519
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal female external genitalia morphology, Abnormal metacarpal morphology, Vaginal fistula, F...	ORPHA:1112
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency...	ORPHA:556
Cerebral Palsy, Spastic Quadriplegic, 3	Microcephaly, Gray matter heterotopia	OMIM:617008
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Thick cerebral cortex, Dilat...	ORPHA:261183
Kindler Epidermolysis Bullosa	Cheilitis, Abnormality of the anus, Short 4th metacarpal, Phimosis, Carious teeth, Inflammation o...	ORPHA:2908
Coxoauricular Syndrome	Abnormal femur morphology, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Acute Disseminated Encephalomyelitis	Irritability, Myelitis, Confusion, Abnormal spinal cord morphology, Mental deterioration	ORPHA:83597
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Hydrocephalus, Cystath...	OMIM:277400
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:608013
Seckel Syndrome 10	Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio...	OMIM:617253
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis	ORPHA:163596
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Growth delay, Failure to thrive, Nephrocalcinosis, Distal renal tubular ...	OMIM:602722
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Homocystinuria, Cystathioninuria, Glossitis, Stomatitis, High palate, Tracheoesopha...	OMIM:277380
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:615356
Hardikar Syndrome	Bilateral cleft palate, Intestinal malrotation, Unilateral cleft lip, Umbilical hernia, Bilateral...	OMIM:301068
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Isothenuria, Short stature, Failure to thrive, Nephrocalcinosis, Distal renal tubular ac...	OMIM:611590
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia, Conotruncal defect, Cleft palate	OMIM:243440
Auriculocondylar Syndrome	Macrocephaly, Abnormality of the temporomandibular joint, Difficulty in tongue movements, Mandibu...	ORPHA:137888
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Ri...	ORPHA:1652
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ...	ORPHA:989
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Bilateral cleft palate, Non-midline cleft of the upper lip, Depressed nasal ridge, T...	ORPHA:2003
Pearson Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Hy...	ORPHA:699
Glycogen Storage Disease Ii	Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly	OMIM:232300
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,...	ORPHA:3241
Autosomal Recessive Hypophosphatemic Rickets	Tibial bowing, Abnormality of renal excretion, Craniosynostosis, Genu varum, Rickets of the lower...	ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
African Trypanosomiasis	Abnormality of renin-angiotensin system, Myocarditis, Abnormal basal ganglia MRI signal intensity...	ORPHA:3385
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Death in infancy, Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Fucosidosis	Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria	OMIM:230000
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Capillary Malformation-Arteriovenous Malformation	Arteriovenous malformation, Hydrocephalus, Chylothorax, Arteriovenous fistula, Peripheral arterio...	ORPHA:137667
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, De...	OMIM:617478
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Truncal obesity	OMIM:222700
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Hammertoe, Talipes equinovarus, Tongue atrophy	OMIM:601596
Joubert Syndrome 33	Macrocephaly, Syndactyly	OMIM:617767
Osteogenesis Imperfecta, Type Vii	Osteopenia, Long philtrum, Rhizomelia, Crumpled long bones, Femoral retroversion, Hypoplastic pul...	OMIM:610682
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema...	OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Abnormality of the dentition, Short s...	OMIM:193100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age, Short stature, Glycosuria, Hyperphosphaturia, Nephrocalcinosi...	OMIM:616026
1P21.3 Microdeletion Syndrome	Short nose, Macrocephaly, Micrognathia, Obesity, Broad nasal tip, Wide mouth, Joint hypermobility...	ORPHA:293948
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Abnormality of the sphenoid sinus, Sialadenitis, Thyroidit...	ORPHA:449563
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hepatitis, Splenomegaly, Weight loss, Hepatic steatosis	OMIM:615846
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Growth delay, Tooth abscess, Hyperphosphaturia, Osteomalacia, Bowing of the legs	ORPHA:89937
Cutis Laxa, Autosomal Dominant 1	Long philtrum, Emphysema, Uterine prolapse, Bronchiectasis, Convex nasal ridge, Ventricular septa...	OMIM:123700
Keutel Syndrome	Cerebral calcification, Miscarriage, Pulmonic stenosis, Shortening of all distal phalanges of the...	OMIM:245150
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus, Areflexia of upper limbs	OMIM:616155
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita...	ORPHA:64744
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Madelung deformity, Ulnar bowing, Mesomelic short stature, Microdontia, Micromelia, Sh...	ORPHA:1765
Adrenomyeloneuropathy	Memory impairment, Dorsal column degeneration, Atrophy of the spinal cord, Cognitive impairment, ...	ORPHA:139399
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in...	OMIM:620570
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr...	ORPHA:93111
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Patent ductus arteriosus, Intrauterine growth retardation, Overriding aorta, Ventricul...	OMIM:617021
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Pericardial effu...	OMIM:618775
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Amyotrophic lateral sclerosis, Tongue atrophy	OMIM:613435
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Supernumerary nipple	ORPHA:1433
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration	ORPHA:66634
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Diamond-Blackfan Anemia 10	Ectopic kidney, Choanal atresia, Short stature, Growth delay, Micrognathia, Supernumerary ribs, C...	OMIM:613309
Cystic Fibrosis	Male infertility, Cirrhosis, Pancreatitis, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, E...	OMIM:219700
Bazex-Dupre-Christol Syndrome	Low hanging columella, Narrow nasal ridge, Furrowed tongue, Joint hypermobility, Underdeveloped n...	OMIM:301845
Fanconi Renotubular Syndrome 3	Rickets, Low-molecular-weight proteinuria, Renal insufficiency, Growth delay, Short stature, Glyc...	OMIM:615605
Basal Cell Nevus Syndrome 2	Hydrocephalus, Macrocephaly, Calcification of falx cerebri, Palmar pits	OMIM:620343
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Wiskott-Aldrich Syndrome	Hyperostosis, Vasculitis, Arthritis, Gingival bleeding, Hypoplasia of the thymus, Sinusitis, Infl...	ORPHA:906
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Midline defect of the nose, Finger syndactyly, Anteverted nares, Cachexia, Short hard palate, Sho...	ORPHA:1969
Gaisböck Syndrome	Obesity, Overweight, Cholecystitis	ORPHA:90041
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus, Cachexia, Microcephaly, Short stature	ORPHA:220295
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism	ORPHA:2239
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Neon...	OMIM:609638
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Hypomagnesemia 3, Renal	Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Ricket...	OMIM:248250
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus, Neoplasm of the lung, Adenomatous colonic polyposis, Progre...	ORPHA:616
Hypercholanemia, Familial 1	Rickets, Failure to thrive, Steatorrhea, Fat malabsorption	OMIM:607748
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Cerebral calcification, Ventricular hypertrophy, Nephrocalcinosis, Pa...	ORPHA:51608
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Toe cl...	OMIM:619910
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Patent foramen ovale, Notched primary central incisor, Right atrial enl...	OMIM:620519
Adult Syndrome	Breast hypoplasia, Finger syndactyly, Hypoplastic nipples, Absent nipple, Abnormality of the dent...	ORPHA:978
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatomegaly, Congenital hydrocele, Parotitis, Hepatosplenomegaly, Splenomegaly, Epididymitis, Ca...	OMIM:620376
Myopathy, Myofibrillar, 7	Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow flexion contracture,...	OMIM:617114
Thyrotoxic Periodic Paralysis	Obesity, Weight loss, Increased intramyocellular lipid droplets	ORPHA:79102
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Pulmonic stenosis, Umbilical he...	OMIM:616028
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Diabetes mellitus, Micropenis	ORPHA:51
Ciliary Dyskinesia, Primary, 43	Recurrent lower respiratory tract infections, Chronic rhinitis, Noncommunicating hydrocephalus, R...	OMIM:618699
Fanconi Renotubular Syndrome 1	Rickets, Low-molecular-weight proteinuria, Renal tubular dysfunction, Short stature, Glycosuria, ...	OMIM:134600
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Glossitis, Stomatitis, Growth delay, Failure to thrive, Abnormal heart...	ORPHA:79284
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia, Bifid uvula, Glossoptosis	OMIM:615706
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:600740
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl...	ORPHA:1686
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Hypophosphatemic Bone Disease	Short stature, Rickets, Bowing of the legs, Osteomalacia	OMIM:146350
Fanconi-Bickel Syndrome	Postnatal growth retardation, Rickets, Generalized aminoaciduria, Renal tubular dysfunction, Hype...	OMIM:227810
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Short s...	ORPHA:158668
Superficial Siderosis	Memory impairment, Atrophy of the spinal cord, Cognitive impairment, Abnormal spinal cord morphol...	ORPHA:247245
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Glucagonoma	Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Increased circulating gonadotropin...	ORPHA:97280
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Distal Renal Tubular Acidosis	Rickets, Low-molecular-weight proteinuria, Reduced bone mineral density, Hypocitraturia, Decrease...	ORPHA:18
Amyotrophic Lateral Sclerosis 27, Juvenile	Intrinsic hand muscle atrophy, Tongue fasciculations, Scapular winging, Tongue atrophy	OMIM:620285
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Renal Tubular Acidosis, Proximal	Rickets, Hypercalciuria, Short stature, Proximal renal tubular acidosis, Osteomalacia	OMIM:179830
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Charcot-Marie-Tooth Disease Type 1F	Abnormality of the hand, Proximal muscle weakness in upper limbs, Urinary incontinence, Optic ner...	ORPHA:101085
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Bronchitis, Osteomalacia, Arthri...	OMIM:619381
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cerebral atrophy, Cardiomyopathy, Communicating hydrocephalus, Growth delay, Nephrocalcinosis, Am...	OMIM:616084
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Mandibuloacral Dysplasia Progeroid Syndrome	Generalized lipodystrophy, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating h...	OMIM:619127
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Pyknoachondrogenesis	Short iliac bones, Increased head circumference, Craniofacial hyperostosis, Abnormality of mouth ...	ORPHA:3003
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cleft lip, Cutaneous syndactyly, Cleft palate	ORPHA:2890
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:365
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Clubbing of fingers, Glossitis, Cachexia, Clubbing, Hamartomatous pol...	OMIM:175500
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Burning Mouth Syndrome	Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm...	ORPHA:353253
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Infantile Nephropathic Cystinosis	Rickets, Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Growth delay, Failu...	ORPHA:411629
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Periventricular Nodular Heterotopia 9	Hypoplasia of the corpus callosum, Everted upper lip vermilion, Clinodactyly of the 5th finger, P...	OMIM:618918
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Failure to thrive, Steatorrhea, Fat malabsorption	OMIM:607765
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Distal renal tub...	OMIM:179800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Growth delay, Hand clenching, Flexion contracture, Open mouth, Limited hip extension...	OMIM:614653
Renal Tubular Acidosis Iii	Rickets, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Osteomalacia	OMIM:267200
Constricting Bands, Congenital	Abnormal lung lobation, Ectopia cordis, Encephalocele, Cleft upper lip, Hand polydactyly, Cleft p...	OMIM:217100
Atypical Werner Syndrome	Lipoatrophy, Generalized lipodystrophy, Decreased body weight, Failure to thrive, Hepatic steatos...	ORPHA:79474
Brown-Vialetto-Van Laere Syndrome 1	Death in childhood, Tongue fasciculations, Hand muscle atrophy, Recurrent respiratory infections,...	OMIM:211530
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Neuromuscular Oculoauditory Syndrome	Wrist flexion contracture, Multiple renal cysts, Agenesis of corpus callosum, Knee flexion contra...	OMIM:618733
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Lelis Syndrome	Mandibular prognathia, Furrowed tongue, Carious teeth, Palmoplantar hyperkeratosis, Hypodontia	ORPHA:140936
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Smooth tongue, Growth delay, Enamel hypoplasia, Failure to thrive, Palmoplantar...	ORPHA:79396
Lymphedema-Distichiasis Syndrome	Microphthalmia, Chylothorax, Cleft upper lip, Micrognathia, Cleft palate, Tetralogy of Fallot, Pa...	OMIM:153400
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal atresia, Rectal abscess, Ventricular septal defect, Hypoplasia of the thymus, Intestin...	ORPHA:436252
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Neurogenic bladder, Dermal sinus tract,...	OMIM:600145
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Short stature, Glycosuria, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Recur...	OMIM:268315
Acrodermatitis Enteropathica	Cheilitis, Glossitis, Furrowed tongue, Short stature, Failure to thrive, Cerebral cortical atroph...	ORPHA:37
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner...	ORPHA:47159
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Hartnup Disease	Glossitis, Gingivitis, Short stature, Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Amyotrophic Lateral Sclerosis	Cachexia, Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia, Tongue atrophy	ORPHA:803
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Remnants of the hyaloid vascular system	ORPHA:637
Isolated Arrhinia	Midline defect of the nose, Microphthalmia, Aplasia/Hypoplasia of the nasal septum, Absent nasal ...	ORPHA:1134
Isolated Posterior Meningocele	Increased head circumference, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocel...	ORPHA:268810
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal upper limb amyotrophy, Periventricular leukomalacia, Proximal muscle weakness in upper l...	ORPHA:466768
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Mucoepithelial Dysplasia, Hereditary	Hematuria, Furrowed tongue, Erythematous oral mucosa, Recurrent pneumonia, Pneumonia, Cor pulmona...	OMIM:158310
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Patent foramen ovale, Ventricular septal defect, Nephrolithias...	OMIM:615474
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Microvesicular hepatic steatosis, Failure to thrive, Left ventricular hypertroph...	OMIM:220111
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Chronic kidney diseas...	ORPHA:3337
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Grange Syndrome	Decreased body weight, Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension...	OMIM:602531
Agel Amyloidosis	Cardiomyopathy, Respiratory tract infection, Proteinuria, Stage 5 chronic kidney disease, Xerosto...	ORPHA:85448
Hereditary Folate Malabsorption	Cheilitis, Glossitis, Cerebral calcification, Failure to thrive, Recurrent respiratory infections	ORPHA:90045
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,...	OMIM:212093
Amoebiasis Due To Free-Living Amoebae	Abnormal spinal cord morphology, Confusion, Irritability	ORPHA:68
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Microphthalmia, Pathologic fracture, Tibial bowing, Osteoporosis, Short stature, Micr...	OMIM:259770
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Difficulty in tongue ...	ORPHA:99956
Chronic Thromboembolic Pulmonary Hypertension	Right atrial enlargement, Inflammation of the large intestine, Obesity, Right ventricular dilatat...	ORPHA:70591
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Osteoporosis, Growth delay, Weight loss, Osteomalacia, Colitis	ORPHA:309031
Plummer-Vinson Syndrome	Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy	ORPHA:54028
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Hammertoe, Tongue fasciculations, Failure to thrive, Hip dysplasi...	ORPHA:99949
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis, Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue, Oligoarthritis	OMIM:614204
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Elbow flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal arteriolar tortuosity, Ischemic stroke, Microphthalmia, Dilation of Virchow-Robin spaces,...	OMIM:175780
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Duodenal ...	ORPHA:141127
Melkersson-Rosenthal Syndrome	Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia	ORPHA:2483
Primary Sjögren Syndrome	Depression, Abnormal spinal cord morphology, Dementia, Cognitive impairment	ORPHA:289390
Odontoonychodermal Dysplasia	Conical incisor, Smooth tongue, Abnormality of primary teeth, Palmoplantar hyperkeratosis, Hypodo...	OMIM:257980
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Adenocarcinoma of the colon, Agenesis of corpus callosum, Adenomatous co...	OMIM:276300
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Arteriovenous fistula, Finger aplasia, Hand polydactyly, Syndactyly	OMIM:149000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Eisenmenger Syndrome	Atrioventricular canal defect, Bacterial endocarditis, Stroke, Aortopulmonary window, Clubbing, A...	ORPHA:97214
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Intellectual Developmental Disorder, Autosomal Recessive 78	Retrognathia, Cubitus valgus, Clinodactyly of the 5th finger, High palate, Microcephaly, Microret...	OMIM:620237
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal calcium clearance to creatin...	ORPHA:405
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Plague	Acute infectious pneumonia, Arthritis, Glossitis, Inflammation of the large intestine, Enterocoli...	ORPHA:707
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665
Pachyonychia Congenita 3	Palmoplantar keratoderma, Gingivitis, Furrowed tongue, Oral leukoplakia, Palmar hyperkeratosis, C...	OMIM:615726

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Testis - MPATH pathological process term developmental dysplasia	Wdr11^em1(IMPC)Mbp	HOM	Late adult
Epididymis - MPATH pathological process term developmental dysplasia	Wdr11^em1(IMPC)Mbp	HOM	Early adult
Testis - MPATH pathological process term developmental dysplasia	Wdr11^em1(IMPC)Mbp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wdr11.

No publications found that use IMPC mice or data for Wdr11.

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MGI Allele	Allele Type	Produced
Wdr11^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Wdr11^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Wdr11^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Wdr11 MGI:1920230

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

X-ray

Histopathology

Histopathology

MicroCT E18.5

Human diseases caused by Wdr11 mutations

Histopathology

IMPC related publications

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