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Gene: Alkbh1 MGI:2384034

Gene Summary

Name:

alkB homolog 1, histone H2A dioxygenase

Synonyms:

Alkbh, Nrp, alkB

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
enlarged lymph nodes	Alkbh1^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.00
preweaning lethality, complete penetrance	Alkbh1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.18×10^-05
abnormal liver morphology	Alkbh1^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.00
abnormal ileum morphology	Alkbh1^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.00
abnormal mammary gland morphology	Alkbh1^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.00
increased plasmacytoid dendritic cell number	Alkbh1^{tm1b(EUCOMM)Hmgu}	HET	Late adult	9.18×10^-05
abnormal kidney morphology	Alkbh1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
abnormal spleen morphology	Alkbh1^{tm1b(EUCOMM)Hmgu}	HET	Early 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.

Electrocardiogram (ECG)

Waveform Image

36 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Human diseases caused by Alkbh1 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 Alkbh1 (0 diseases)
Human diseases predicted to be associated with Alkbh1 (1863 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Alkbh1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Cofs Syndrome	Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Short stature, Camptodact...	ORPHA:1466
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia...	OMIM:206920
Anencephaly 2	Anophthalmia, Anencephaly, Bifid nose	OMIM:619452
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Small placenta, Abn...	ORPHA:439167
Trisomy 13	Anophthalmia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Intrauterin...	ORPHA:3378
Warburg Micro Syndrome 1	Anteverted nares, External genital hypoplasia, Short stature, Micrognathia, Overlapping toe, Cryp...	OMIM:600118
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Abnormal hand morphology, Short phalanx of...	OMIM:300845
Microphthalmia, Syndromic 12	Anophthalmia, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Microphthalmia	OMIM:615524
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Depressed nasal ridge, Microphthalmia, Shor...	OMIM:613885
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Downturned corners of mouth, High palate, Abnormal bone ossification, Abnormal femo...	ORPHA:163649
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Micrognathia, Large ...	ORPHA:93267
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely...	ORPHA:363417
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula...	ORPHA:280679
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Alopecia, Malabsorption, Splenomegaly, Lymphad...	ORPHA:100025
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Microphthalmia	OMIM:164180
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Short stature, Microcornea, Growth delay, Hypogonadism, High palate, Narrow mouth, Micr...	ORPHA:2528
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Short stature, Macular atrophy, Prominent nose, Micrognathia, Optic ...	OMIM:616171
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Proximal placement of...	ORPHA:139471
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/a...	OMIM:136760
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A...	ORPHA:93323
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pierpont Syndrome	Microcornea, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Short stature...	OMIM:602342
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Microcornea, Persistent pupi...	OMIM:257850
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Short stature, Abnormal metacarpal morphology, Reduced bone mineral density, Abn...	ORPHA:2370
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Abnormality of the dentition, High pa...	ORPHA:217340
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Flexion c...	ORPHA:90322
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Anteverted nares, Depres...	OMIM:614613
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Oculofaciocardiodental Syndrome	Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb...	ORPHA:2712
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Nanophthalmos 2	Microphthalmia	OMIM:609549
Non-Distal Duplication 10Q	Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Joint hyperflexibility, High...	ORPHA:1695
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Pierpont Syndrome	Joint laxity, Thin upper lip vermilion, Prominent fingertip pads, Wide nasal ridge, Cryptorchidis...	ORPHA:487825
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Short stature, Camptodactyly of finger, Abnormality of the philtrum, M...	ORPHA:2863
Temtamy Syndrome	Brachydactyly, Convex nasal ridge, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum...	ORPHA:1777
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Malar prominence...	ORPHA:48431
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Cataract, Prominent nasal bridge, Rocker bottom foot, Micrognathia, Ca...	OMIM:214150
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp...	OMIM:201000
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Postnatal growt...	OMIM:619135
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Cataract, Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningoc...	ORPHA:1914
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Tibial bowing, Camptodactyly of 2n...	ORPHA:1106
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to ...	OMIM:275400
Cerebrooculonasal Syndrome	Anophthalmia, Downturned corners of mouth, High palate, Iris coloboma, Encephalocele, Anteverted ...	OMIM:605627
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe...	OMIM:618889
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Distal Duplication 18Q	Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Choanal atresia, Micrognathia, Ca...	ORPHA:1716
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Microcornea, Downturned corners of mouth, High palate, Scapular winging, A...	ORPHA:1327
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Chorioretinal d...	ORPHA:899
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Craniosynost...	ORPHA:171839
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Retinal detachment, Crumpled long bones, Corneal opacity, Short stature...	ORPHA:2788
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Microdontia, Cli...	OMIM:618727
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle...	ORPHA:2189
Proteus-Like Syndrome	Mandibular prognathia, Retinal detachment, Thymus hyperplasia, Cataract, Anteverted nares, Genu r...	ORPHA:2969
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Sev...	ORPHA:3163
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Bilateral c...	ORPHA:2409
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused ...	OMIM:300166
Trisomy 1Q	Microretrognathia, Wide nose, Small scrotum, Anophthalmia, Camptodactyly of finger, Depressed nas...	ORPHA:261344
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Mi...	ORPHA:93329
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short stature, Ost...	OMIM:612463
2Q24 Microdeletion Syndrome	Cataract, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Warburg Micro Syndrome 3	Small scrotum, Cataract, Micrognathia, Postnatal growth retardation, Hypoplastic labia minora, Fl...	OMIM:614222
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange...	ORPHA:3434
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Telangiectasia of the skin, Corneal dystrophy, Micrognathia,...	ORPHA:52
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Hypogonadi...	OMIM:615982
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger...	OMIM:212720
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Tricuspid regurgitation, Anophthalmia, Camptodactyly of finger, Corneal dy...	ORPHA:1101
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Prominent nos...	OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Axial Spondylometaphyseal Dysplasia	Osteopenia, Mild postnatal growth retardation, Proximal femoral metaphyseal irregularity, Coxa va...	ORPHA:168549
Cockayne Syndrome Type 1	Mandibular prognathia, Cataract, Foot joint contracture, Anophthalmia, Delayed eruption of primar...	ORPHA:90321
Otodental Syndrome	Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Anteve...	ORPHA:2791
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Focal Dermal Hypoplasia	Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ...	OMIM:305600
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Cataract, Anteverted nares, Down-sloping shoulders, Micrognathia, Cubitus valgus, Knee...	OMIM:619694
Scheie Syndrome	Mandibular prognathia, Aortic regurgitation, Wide nose, Corneal opacity, Depressed nasal bridge, ...	OMIM:607016
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia, Arthrogrypos...	OMIM:616570
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Clinodactyly, Hydro...	OMIM:618577
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Short stature, Cleft upper lip, Postnatal growth reta...	OMIM:243310
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hyp...	ORPHA:3412
Meckel Syndrome	Anophthalmia, Sclerocornea, Micrognathia, Depressed nasal ridge, Microcornea, Encephalocele, Abno...	ORPHA:564
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Short stature, Cryptorchidi...	OMIM:607812
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retina...	OMIM:610125
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Microcorne...	OMIM:601349
Anophthalmia Plus Syndrome	Abnormal nasal morphology, Anophthalmia, Choanal atresia, Spina bifida	ORPHA:1104
Stickler Syndrome Type 1	Retinal detachment, Cataract, Hypoplasia of the maxilla, Osteoarthritis, Abnormal vitreous humor ...	ORPHA:90653
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Short stature, Rhizomelia, Anterior rib cupping, Proximal femoral metaph...	OMIM:602271
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Joint stiffness, Long fingers,...	ORPHA:1895
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Deep philtrum, Panhypopituitarism, Depressed nasal ridge, Abse...	ORPHA:2162
Hao-Fountain Syndrome	Hallux valgus, Cryptorchidism, Large fontanelles, Clinodactyly of the 5th finger, Premature adren...	OMIM:616863
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi...	OMIM:614078
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cataract, Septo-optic dysplasia, Aplasia/Hypoplasia involving the ...	ORPHA:3301
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Anteverted nares, Short statu...	ORPHA:2510
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Ocular ante...	ORPHA:369891
Kapur-Toriello Syndrome	Cataract, Overlapping fingers, Camptodactyly of finger, Single transverse palmar crease, Cleft up...	OMIM:244300
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Short stature, Delayed cranial s...	ORPHA:93325
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Bardet-Biedl Syndrome 16	Short stature, External genital hypoplasia, Hypogonadism, Polydactyly, Rod-cone dystrophy, Retina...	OMIM:615993
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C...	OMIM:234100
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri...	ORPHA:96264
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Brachydactyly, Short stature, Craniosynostosis, Micrognathia, Un...	ORPHA:166035
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor...	OMIM:252600
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Gombo Syndrome	Microphthalmia	OMIM:233270
Moebius Syndrome	Abnormal nasopharynx morphology, Micrognathia, High palate, Lower limb undergrowth, Micropenis, S...	OMIM:157900
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi...	OMIM:612350
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Cryptorch...	ORPHA:496790
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Anosmia, Pyrif...	OMIM:147250
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Dental crowding, Abnormally large globe, High palate, Microdon...	OMIM:269300
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short stature, Sho...	OMIM:103580
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Hypogonadism, Sho...	OMIM:302950
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short stature, Short 1st metacarpal, Joint hyperflexibility, Hip dyspl...	ORPHA:63442
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Developmental cataract, Inc...	OMIM:618761
Gapo Syndrome	Mandibular prognathia, Dysmenorrhea, Abnormal cerebral vascular morphology, Micrognathia, Thick n...	ORPHA:2067
Rhiny	Short nose, Anteverted nares	OMIM:180360
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt...	OMIM:614732
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Single transverse ...	OMIM:613544
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Hip dysplasia, Thin vermilion bor...	OMIM:617991
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, P...	ORPHA:77298
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submuco...	ORPHA:2250
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ...	OMIM:619148
Osteopathia Striata-Cranial Sclerosis Syndrome	Micrognathia, High, narrow palate, Large iliac wing, Spina bifida occulta, Bifid uvula, Increased...	ORPHA:2780
Nance-Horan Syndrome	Mandibular prognathia, Retinal detachment, Short metacarpal, Cataract, Prominent nasal bridge, Pr...	ORPHA:627
Temtamy Syndrome	Aortic regurgitation, Brachydactyly, Dental crowding, Convex nasal ridge, Micrognathia, Lens luxa...	OMIM:218340
Charge Syndrome	Bifid scrotum, Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Abnormality of bone ...	ORPHA:138
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Sho...	ORPHA:568
Warburg Micro Syndrome 2	Small scrotum, Cataract, Prominent nasal bridge, Overlapping toe, Clinodactyly of the 5th toe, Po...	OMIM:614225
48,Xxyy Syndrome	Hypoplasia of penis, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal denta...	ORPHA:10
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi...	ORPHA:3363
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Long toe, Short stature, Arachnodactyly, Decreased fibular...	OMIM:619489
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Smooth philtrum, Slender nose, Thin upper lip vermilion, Micrognathia, Postnatal growth retardati...	OMIM:615419
Pelvis-Shoulder Dysplasia	Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris co...	ORPHA:2839
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,...	OMIM:300577
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Irregular dentition, Cataract, Depressed nasal bridge, Macular coloboma, Macul...	OMIM:619260
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Short stature, Carious teeth, Cryptorchidism, Deep philtrum, Abnormality of the...	ORPHA:2701
Ruvalcaba Syndrome	Short palm, Short metacarpal, Retinal dystrophy, Short stature, Dental crowding, Underdeveloped n...	OMIM:180870
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Cataract, Flexion contracture, Hip dysplasia, Short nose	OMIM:618379
Trisomy 18	Abnormality of the fontanelles or cranial sutures, Microcornea, Holoprosencephaly, Iris coloboma,...	ORPHA:3380
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Orofacial cleft, Coxa vara, Aplasia/Hypoplasia of the tibia, Sho...	ORPHA:1988
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Cataract, Anteverted nares, Abnormal dental enamel m...	ORPHA:1458
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d...	OMIM:204200
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Depressed nasal bridge, Hypospadias, Broad hallux, Micrognathia, Postnat...	OMIM:614541
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Large fontanelles, Gingival fibromatosis, ...	ORPHA:1832
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Sclerocornea, Micrognathia, Downturned corners of mouth, High palate, Short ...	ORPHA:284160
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ...	ORPHA:485
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose	ORPHA:411986
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Hypospad...	OMIM:619736
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Unde...	OMIM:614230
Osteoglosphonic Dysplasia	Severe short stature, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Rhizomel...	ORPHA:2645
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short stature, Ele...	OMIM:612462
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Hypospadias, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Cryptorchi...	OMIM:175700
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Diabetes mellitus, Telangiectasia...	ORPHA:3019
Warburg Micro Syndrome 4	Small scrotum, Anteverted nares, Prominent nasal bridge, Short stature, Cryptorchidism, Flexion c...	OMIM:615663
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Widely pa...	OMIM:228520
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Micro...	ORPHA:166272
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute...	ORPHA:73272
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Anteverted nares, Choanal atresia, Micrognathia, Postnatal growth retardation, Crypt...	ORPHA:494344
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypoplastic nasal bridge, Aplasia/Hypoplasia invo...	ORPHA:633
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Abno...	ORPHA:233
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th...	OMIM:613026
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Wide nose, Brachydactyly, Depressed nasal bridge, Anteverted nares, Sh...	OMIM:614607
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi...	ORPHA:534
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Bilateral single transverse palmar creases, Rocker bottom foot, Wide nas...	OMIM:618804
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, A...	OMIM:152950
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ...	OMIM:300863
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Short ...	OMIM:268400
Autosomal Dominant Omodysplasia	Bifid scrotum, Short palm, Hypoplasia of penis, Short humerus, Depressed nasal bridge, Rhizomelia...	ORPHA:93328
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
3M Syndrome	Congenital hip dislocation, Abnormal cerebral vascular morphology, Micromelia, Clinodactyly of th...	ORPHA:2616
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,...	ORPHA:2097
Short Syndrome	Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Megalocornea, Joint laxity, Wide n...	OMIM:269880
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Convex nasal ridge, Cryptorchidism, Postaxial ...	ORPHA:85284
Filippi Syndrome	Single transverse palmar crease, Underdeveloped nasal alae, Postnatal growth retardation, Cryptor...	OMIM:272440
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Depressed nasal ri...	ORPHA:96263
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Widely space...	OMIM:300882
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Reduced bon...	ORPHA:2108
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Short stature, Toe syndactyly,...	OMIM:241800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares	ORPHA:2015
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Prominent nasal bridge, Morning glory anomaly, Postaxi...	OMIM:614424
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Optic atrophy, Growth delay, Narrow mouth, ...	ORPHA:1495
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Epispadias, Vitritis, Retinal ...	ORPHA:2556
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:141333
Ohdo Syndrome	Joint laxity, Small scrotum, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathi...	OMIM:249620
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, External genital hypoplasia, Micrognathia, Generalized joint laxity,...	ORPHA:251028
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Acromicric Dysplasia	Short palm, Short metacarpal, Severe short stature, Anteverted nares, Brachydactyly, Joint stiffn...	ORPHA:969
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty...	OMIM:615986
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Flexion contracture, Micropen...	OMIM:616897
Distal Deletion 6P	Micrognathia, Orofacial cleft, Hypoplasia of the iris, Downturned corners of mouth, Short philtru...	ORPHA:96125
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Small scrotum, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae...	ORPHA:228390
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitar...	OMIM:206900
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Corneal opacity, Abnormality of the fontanelles or cranial sutures, Microcornea, Microphthalmia, ...	ORPHA:2432
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration, Abnormality of the dentition	OMIM:251700
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, ...	ORPHA:261120
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, Coxa ...	ORPHA:2962
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Thick na...	ORPHA:192
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Sagittal cranios...	OMIM:145420
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:277440
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Downturned corners of mouth, High palate, Prominent metopic ridge, Anteverted nares...	OMIM:613792
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Clitoral hypoplasia, Sho...	OMIM:268310
Verheij Syndrome	Joint laxity, Vertebral fusion, Branchial cyst, Thin upper lip vermilion, Anteverted nares, Optic...	OMIM:615583
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Conve...	OMIM:600252
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Anteverted nare...	OMIM:616331
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
2Q31.1 Microdeletion Syndrome	Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Cataract, Depressed nasal bridge, Short stature, Tented upper lip vermilion, ...	OMIM:619833
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Dental crowding, Knee flexion contracture, High palate,...	OMIM:193700
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo...	OMIM:616007
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Microdontia, Retinal degeneration, Anteverted nares, D...	OMIM:607014
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Short philtrum, Foot oligodactyly, Hypothyroidism, Synostosis of...	ORPHA:3258
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger...	ORPHA:137834
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Fatty Acyl-Coa Reductase 1 Deficiency	Smooth philtrum, Thin upper lip vermilion, Short stature, Depressed nasal bridge, Growth delay, L...	ORPHA:438178
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Wide ant...	OMIM:619339
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
1Q21.1 Microdeletion Syndrome	High palate, Clinodactyly of the 5th finger, Iris coloboma, Broad hallux phalanx, Short stature, ...	ORPHA:250989
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Multiple joint contractures, Congenital hip dislocation, Overlapping fingers, Femur fracture, Mic...	OMIM:618291
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly, Microcornea, Clinodactyly of the 5th finger, B...	ORPHA:2710
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab...	ORPHA:163966
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Abnormal...	OMIM:210600
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Spli...	ORPHA:2145
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Underdeveloped nasal alae, Patchy atrophy of the retinal pigment epi...	ORPHA:436245
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Depressed nasal bridge, Retinal dystrophy, Broad nasal tip, Wide an...	OMIM:222448
Marden-Walker Syndrome	Hypospadias, Anteverted nares, Arachnodactyly, Micrognathia, Postnatal growth retardation, Crypto...	OMIM:248700
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ...	OMIM:613406
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Micrognathia, ...	ORPHA:1556
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Dow...	ORPHA:264200
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, ...	ORPHA:66625
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, Ambiguous ge...	OMIM:260660
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Delayed epiphyseal ossification, Deep philtrum, Anteverted nares, Depressed nasal bri...	OMIM:613320
4H Leukodystrophy	Delayed eruption of teeth, Cataract, Hypogonadotropic hypogonadism, Decreased response to growth ...	ORPHA:289494
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Abnormality of the fo...	ORPHA:7
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Anteverted nares, Depressed nasal bridge, Short stature, Arachnodactyl...	ORPHA:2719
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormon...	OMIM:241410
Mietens Syndrome	Sclerocornea, Coxa vara, Microcornea, Clinodactyly of the 5th finger, Elbow ankylosis, Hypoplasia...	ORPHA:2557
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda...	ORPHA:235
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Opacificat...	OMIM:270200
Trisomy 9P	Dental crowding, Bilateral single transverse palmar creases, Abnormal nasal morphology, Abnormal ...	ORPHA:236
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnormality of the testis...	ORPHA:99330
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Radio...	OMIM:194350
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Corneal opacity, Toe syndactyly, Micrognathia, Underdevelope...	ORPHA:1234
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Abnormality of the dentition, Cryptorchidism, Postaxial hand polyda...	ORPHA:1702
Morm Syndrome	Micropenis, Cataract, Retinal dystrophy, Retinal atrophy	ORPHA:75858
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone...	OMIM:601794
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft...	ORPHA:2117
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Hypospadias, Prominent nasal bridge, Craniosynostosis, Mic...	ORPHA:96097
Trichothiodystrophy	Osteopenia, Joint dislocation, Multiple joint contractures, High, narrow palate, Microcornea, Mac...	ORPHA:33364
Joubert Syndrome 37	Wide nose, Prominent metopic ridge, Anteverted nares, Short stature, Postaxial polydactyly, Crypt...	OMIM:619185
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Microcornea, Short philtrum, Cli...	ORPHA:819
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Limitation ...	ORPHA:2547
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro...	ORPHA:3472
Jacobsen Syndrome	Micrognathia, Flexion contracture, Microcornea, Clitoral hypoplasia, Holoprosencephaly, Chorioret...	OMIM:147791
Triploidy	Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Micrognathia, Cryptorchidism, Non-...	ORPHA:3376
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Calcan...	ORPHA:79345
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Dental crowding, Micrognathia, High pala...	ORPHA:96170
Three M Syndrome 1	Mandibular prognathia, Joint dislocation, Clinodactyly of the 5th finger, Spina bifida occulta, S...	OMIM:273750
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Clitoral hypertrophy, Brachydactyly, Hypoplastic ischia, Micrognathia, B...	ORPHA:313855
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Cleft ala nasi, Dental crowding, Abnormal thymus m...	OMIM:219000
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Thick upper lip vermilion, ...	ORPHA:560
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Anophthalmia, Sclerocornea, Rhizomelia, Precocious puberty, 2-3 toe syndac...	OMIM:615877
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Hypospadias, Short stature, Bilateral single transverse pal...	ORPHA:1786
Perlman Syndrome	Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow palate, Open mo...	ORPHA:2849
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, High palate, Microdontia, Juvenile...	ORPHA:221016
Incontinentia Pigmenti	Abnormal hand morphology, Orofacial cleft, Uveitis, Spina bifida occulta, Finger syndactyly, Abno...	ORPHA:464
Adams-Oliver Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Bulbous nose, Hydrocephalu...	OMIM:614219
Microphthalmia, Syndromic 6	Small scrotum, Anophthalmia, Single transverse palmar crease, Sclerocornea, Micrognathia, Adrenal...	OMIM:607932
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh...	OMIM:211750
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Knee flexion contracture, Short philtrum, Wrist flexion contracture, Dislocated rad...	OMIM:610758
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Depressed nasal bridge, Corneal opacity, Anteverted nares, Patent ductus arteriosu...	OMIM:618961
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Osteoarthr...	ORPHA:666
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ...	ORPHA:1692
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Abnormal dental enamel morphology, Patc...	ORPHA:2323
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Anteverted nares, Wide ...	OMIM:311900
Frontorhiny	Encephalocele, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal ...	ORPHA:391474
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar...	OMIM:612394
Achondrogenesis Type 1B	Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio...	ORPHA:93298
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Palmar ...	ORPHA:77301
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios	ORPHA:397590
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Patent ductus arte...	ORPHA:290
Peho-Like Syndrome	Tapered finger, Optic atrophy, Short nose, Retrognathia, Open mouth	OMIM:617507
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Short stature, Single transverse palmar crease, Micro...	OMIM:613604
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostosis, Short ...	OMIM:601853
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Abnormal pupil morphology, Vag...	ORPHA:2119
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Finger clinodactyly, High palate, Abnormality of t...	ORPHA:99776
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Ambiguous genitalia, Micropenis, Retinopathy	OMIM:614464
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, S...	OMIM:617877
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:264700
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Donnai-Barrow Syndrome	Retinal detachment, Depressed nasal bridge, Retinal dystrophy, Wide anterior fontanel, Bicornuate...	ORPHA:2143
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Short stature, Abnormal dental enamel morphology, Joint stif...	ORPHA:816
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto...	ORPHA:3121
Harel-Yoon Syndrome	Mandibular prognathia, Corneal opacity, Micrognathia, Optic atrophy, Developmental cataract, Hip ...	OMIM:617183
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Abnormally large globe	OMIM:611936
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Smooth philtrum, Thin upper lip vermilion, ...	ORPHA:401935
Elsahy-Waters Syndrome	Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutane...	OMIM:211380
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Severe short stature, Anteverted nares, Recurrent fractures, ...	ORPHA:93299
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Advanced eruption of teeth, Spina bifida occul...	ORPHA:949
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Oculodentodigital Dysplasia	Selective tooth agenesis, Clinodactyly, Uveitis, Microcornea, High palate, Joint contracture of t...	OMIM:164200
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Clinoda...	OMIM:113620
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Ectopia lent...	ORPHA:2325
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Prolonged bleeding time, Odontodysplasia, Pulp obliterat...	ORPHA:49042
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red...	ORPHA:740
Ceroid Lipofuscinosis, Neuronal, 1	Flexion contracture, Optic atrophy, Vascular granular osmiophilic material deposition, Macular de...	OMIM:256730
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Mend Syndrome	Cataract, Short stature, Prominent nasal bridge, Broad hallux, Micrognathia, Asymmetry of the mou...	ORPHA:401973
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ...	ORPHA:2083
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Ir...	ORPHA:195
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Short stature, Overlapping toe, Cleft lip, Bulbous nose, Deep philtr...	OMIM:618571
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tachycardia, Brachydactyly, Decreased response to growth hormone stimulation test,...	ORPHA:485405
Momo Syndrome	Delayed eruption of teeth, Short stature, Abnormality of the thyroid gland, Bilateral microphthal...	ORPHA:2563
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Cataract, Congenital hip dislocation, Short stature, Narrow nasal ridge, Cr...	OMIM:219150
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Clinodactyly, Peters anomaly, Microphthalmia, Ocular anterior segment ...	OMIM:610023
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Abnormal hip joint morphology, Cataract, Hypoplasia of the ulna, Broad hallux...	ORPHA:1856
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Nanophthalmos	Microphthalmia	ORPHA:35612
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Anteverted nares, Depressed...	OMIM:600373
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha...	ORPHA:363741
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi...	OMIM:216400
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Arachnodactyly,...	ORPHA:377
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, C...	OMIM:616638
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Short stature, Micrognathia, Cryptorchidism, Congestive heart failure...	ORPHA:2505
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine...	ORPHA:364577
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Retinal dysplasi...	ORPHA:324416
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral...	OMIM:601559
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Broad hallux, Sin...	OMIM:614105
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ...	ORPHA:93324
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Microdontia, Juvenile cataract, Hypothyroidism, Short phalanx of...	ORPHA:221008
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Bifid uvula, Joint laxity, ...	OMIM:601552
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short stature, Prominent nasal bridge, Osteoporosis, Cone-shaped epiph...	ORPHA:71267
Myopathy, Tubular Aggregate, 1	Joint contracture, Flexion contracture, Weakness of the intrinsic hand muscles, Abnormal pupil mo...	OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi...	OMIM:209900
Trisomy 12P	Short stature, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypop...	ORPHA:1699
Hypophosphatasia, Infantile	Craniosynostosis, Abnormality of the dentition, Bowing of the legs, Micromelia, Increased suscept...	OMIM:241500
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Severe short stature, Bilateral single...	ORPHA:2511
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Proboscis Lateralis	Anophthalmia, External genital hypoplasia, Single naris, Orofacial cleft, Abnormality of the maxi...	ORPHA:141099
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Iris coloboma, Vertebral fusion, Odontogenic keratocysts of t...	OMIM:109400
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Abnormally large globe, Hypoplastic pubic bone, Gingiv...	OMIM:614592
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o...	OMIM:600002
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Aymé-Gripp Syndrome	Oligodontia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ridge, Depressed nas...	ORPHA:1272
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, K...	OMIM:118650
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp...	OMIM:235510
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, Abnormally large globe, High palate, Short palm, Megalocornea, Short ph...	OMIM:249420
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomat...	ORPHA:2215
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Short stature, Dental crowdin...	OMIM:190351
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Clinodactyly, Orofacial cleft, Downturned ...	OMIM:180700
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Hydrocephalus, Flexion contracture, Developmental cataract, Abnormal left vent...	OMIM:613155
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ri...	ORPHA:166277
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Retinal thinning, Short stature, Coxa valga, Genu valgum, Asteroi...	OMIM:132450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Cataract, Corneal opacity, Optic nerve hypoplasia, R...	OMIM:236670
Seckel Syndrome 2	Hypospadias, Short stature, Prominent nose, Micrognathia, Heart murmur, Growth delay, Clinodactyl...	OMIM:606744
Frontofacionasal Dysplasia	Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Short stature, Brushfield spots...	ORPHA:1791
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Developmental cataract, Microcornea, Mulberry m...	OMIM:302350
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Hypothyroidism, Joint lax...	ORPHA:391408
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma...	ORPHA:50814
Blomstrand Lethal Chondrodysplasia	Micrognathia, Neonatal short-limb short stature, Distal shortening of limbs, Increased bone miner...	ORPHA:50945
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Short stature, Micrognathia, Microcornea, Iris transill...	OMIM:617306
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Optic atrophy, Wid...	OMIM:218400
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly ...	OMIM:223370
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Short stature, Depressed nasal ridge...	ORPHA:1816
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Optic atrophy, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal p...	ORPHA:2787
Alkuraya-Kucinskas Syndrome	Small scrotum, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Overlapping fing...	OMIM:617822
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Bardet-Biedl Syndrome 2	Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Dilated cardiomyopath...	OMIM:615981
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, D...	ORPHA:394
Van Maldergem Syndrome 2	Osteopenia, Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Short fourth metatars...	OMIM:615546
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Clin...	ORPHA:96148
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Genu varum, Anteverted nares,...	OMIM:271510
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Encephalocele, Short metacarpal,...	OMIM:108720
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo...	OMIM:615994
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Joint stiffness, Avascular necrosis...	OMIM:132400
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Delayed erupt...	OMIM:265800
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Open mouth, Macroorchidism, S...	OMIM:300143
Isolated Ectopia Lentis	Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Hypertension, Ectopia pupillae,...	ORPHA:1885
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Bi...	ORPHA:87
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation...	OMIM:616910
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Macular degeneration, Widely spaced teeth, High palat...	OMIM:266920
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Short stature, Sandal gap, Postaxial pol...	OMIM:617102
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl...	ORPHA:861
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia	OMIM:268010
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F...	ORPHA:2092
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Mi...	ORPHA:2484
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Anteverted nares, Micrognathia, Precocious puberty, Bilateral tripha...	OMIM:619356
Trisomy 17P	Hypoplasia of penis, Micrognathia, Prominent nose, Flexion contracture, Orofacial cleft, High pal...	ORPHA:261290
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce...	OMIM:619795
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Ellis-Van Creveld Syndrome	Epispadias, Hypoplastic iliac wing, Neonatal short-limb short stature, Hypospadias, Abnormality o...	OMIM:225500
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowing, Tibial bowi...	ORPHA:289157
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ...	OMIM:605130
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Truncus arteriosus, Dental crowding, Delayed eruption of p...	OMIM:609029
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Anteverted nares, Single transvers...	OMIM:247200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho...	ORPHA:1473
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Short distal ph...	OMIM:614608
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Microg...	ORPHA:404440
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit...	ORPHA:1135
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Mirage Syndrome	Overlapping fingers, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Short statu...	OMIM:617053
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Thin upper lip vermilion, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hyp...	ORPHA:1295
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Nanophthalmos 4	Microphthalmia	OMIM:615972
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Long nose, Tracheobronchomalacia, Oligodontia, Short palm, Hypospadias, Astigmat...	OMIM:619184
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Woolly Hair Nevus	Precocious puberty, Widely-spaced incisors, Persistent pupillary membrane, Heterochromia iridis, ...	ORPHA:79414
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Micrognathia, Micropenis, Hypospadias, Anteverted nares, Depressed nasal bridge, S...	OMIM:257300
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Diabetes mellitus, Single transverse palmar crease, Broad nasal tip, Clino...	ORPHA:391372
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Generalized joint laxity, High palate, Microretrognathia, Abnormal blee...	ORPHA:2953
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cho...	OMIM:607765
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Pursed ...	ORPHA:800
Char Syndrome	Mesoaxial foot polydactyly, Depressed nasal bridge, Toe syndactyly, Supernumerary nipple, Persist...	ORPHA:46627
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Short stature, Carious teeth, Bilateral cryptorchidism, Developmental cata...	OMIM:616395
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar...	OMIM:122470
Menkes Disease	Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intracranial ...	OMIM:309400
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Short stature, Craniosynostosis, Underdev...	OMIM:250410
Cerebral Cavernous Malformations	Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation	OMIM:116860
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o...	ORPHA:84
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of t...	OMIM:133540
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Achondrogenesis	Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio...	ORPHA:932
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Maturity-onset diabetes of the young, Microg...	ORPHA:96184
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact...	OMIM:210720
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, High, narro...	ORPHA:2714
Aspergillosis	Sinusitis, Osteomyelitis, Keratitis, Vitritis, Abnormal rib morphology, Intracranial hemorrhage, ...	ORPHA:1163
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath...	ORPHA:2980
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Roifman Syndrome	Narrow nasal bridge, Noncompaction cardiomyopathy, Hip contracture, Thin upper lip vermilion, Hyp...	ORPHA:353298
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem...	ORPHA:335
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Patent ductus ar...	OMIM:601186
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Gapo Syndrome	Micrognathia, High, narrow palate, Eruption failure, Megalocornea, Keratoconus, Anteverted nares,...	OMIM:230740
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Proximal placeme...	OMIM:217980
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Aplasia/Hy...	ORPHA:264450
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Retinal detachment, Rieger anomaly, Prominent metopic ridge, Tented upper ...	ORPHA:521445
Werner Syndrome	Cataract, Diabetes mellitus, Short stature, Osteoporosis, Reduced bone mineral density, Hypogonad...	OMIM:277700
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Marbach-Rustad Progeroid Syndrome	Prominent superficial veins, Short stature, Femur fracture, Delayed eruption of primary teeth, Mi...	OMIM:619322
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Craniosynostosis, Abnormality of the dentitio...	ORPHA:251038
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	OMIM:617602
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Down Syndrome	Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Downturned corners of m...	ORPHA:870
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of pe...	OMIM:618506
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
20Q11.2 Microduplication Syndrome	Bifid scrotum, Tented upper lip vermilion, Short palm, Clinodactyly of the 5th finger, Abnormal n...	ORPHA:363659
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Dental crowding, Narrow nasal ridge, Micrognathia, Insulin-resistant...	OMIM:608612
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Alg3-Cdg	Osteopenia, Cataract, Abnormality of the nose, Abnormality of the endocrine system, Metaphyseal c...	ORPHA:79321
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Short stature, Osteoporosis, Dispro...	ORPHA:85194
Cockayne Syndrome	Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retin...	ORPHA:191
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cryptorchidism, Bulbous nose, Hig...	OMIM:618494
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Micrognathia, Generalized joint laxity, Abnormal optic disc morphology, Hy...	ORPHA:508498
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal growt...	OMIM:179613
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Wide nose, Angina pectoris, Anteverted nares, Short stature, Micr...	ORPHA:109
Microphthalmia, Syndromic 13	Short stature, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced ...	OMIM:300915
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Overtubulated long bones, Short metacarpal, S...	OMIM:618150
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Micrognathia, Proximal placement of thumb, Holoprosencephaly, ...	ORPHA:818
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ...	OMIM:618914
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Acromicric Dysplasia	Short palm, Short metacarpal, Severe short stature, Anteverted nares, Bulbous nose, Deep philtrum...	OMIM:102370
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Reduced bone mineral density, Genu valgum, Downturned corners...	ORPHA:2983
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Micropenis, Lon...	ORPHA:163979
Lathosterolosis	Hypoplasia of penis, Cataract, Anteverted nares, Prominent metopic ridge, Toe syndactyly, Microgn...	ORPHA:46059
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Prominent nose, High palate,...	ORPHA:363528
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Small scrotum, Short stature, Prominent na...	ORPHA:85201
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Tricuspid regurgit...	OMIM:253200
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r...	OMIM:139210
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Microcornea, Heterochromia iridis, Iris coloboma, Promin...	ORPHA:2995
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu...	OMIM:114300
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Prominent nasal bridge, Bilateral cryptorchidism, Patent ductus arterios...	OMIM:618652
Frontonasal Dysplasia 2	Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg...	OMIM:613451
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration, Distal upper limb muscle weakness, Distal upper limb amyotrophy	OMIM:619764
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Elbow contracture, Short stature, Postnatal growth retarda...	OMIM:616489
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito...	ORPHA:97360
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin...	ORPHA:2658
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of penis, Congenital hip dislocation, High palate, Narrow mouth, Clinodacty...	ORPHA:217385
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Short stature, Bifid nasal tip, Unilateral microphthalmos,...	OMIM:618874
Autosomal Recessive Cutis Laxa Type 2A	Abnormal bleeding, Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opaci...	ORPHA:357058
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Cryptorchidism, Clinodactyly, Small hand, Wide nasal bridge, Wide mouth...	OMIM:614684
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Cataract, Depressed nasal bridge, Short stature, Flexion contractu...	ORPHA:35173
Cohen Syndrome	Bone spicule pigmentation of the retina, Decreased response to growth hormone stimulation test, B...	OMIM:216550
Potocki-Shaffer syndrome	Abnormality of the male genitalia, Delayed cranial suture closure	DECIPHER:34
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem...	ORPHA:326
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Brachydactyly, Anteverted nares, Dental crowding, Bulbous nose, Clinod...	OMIM:616354
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsulin...	ORPHA:79474
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Retinal degeneration, Papilledema, Short stature, Abnormal foveal mo...	ORPHA:580
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Pr...	ORPHA:2107
Spinocerebellar Ataxia, Autosomal Recessive 12	Growth delay, Optic atrophy, Retinal degeneration	OMIM:614322
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Short stature, Underdeveloped nasal alae, Macrodontia, ...	OMIM:617883
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial...	OMIM:251230
Fetal Hydantoin Syndrome	Bifid scrotum, Short stature, Cryptorchidism, Depressed nasal ridge, Abnormality of the fontanell...	ORPHA:1912
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Hypoplasia of the maxilla, Increased bone minera...	ORPHA:1798
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac...	OMIM:610967
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Iris colo...	OMIM:102500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Decreased response to growth hormone stimulation tes...	OMIM:615866
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Microphallus,...	ORPHA:94065
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Buphthal...	OMIM:618005
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Micrognathia, Microdontia, Intrauterine growth retardation, Hypothyroidism, Depressed nasal bridg...	OMIM:620005
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog...	ORPHA:1133
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Prominent nose, Short philtrum, Pulmonary artery atresia, Long toe, Hypospadias, Anteverted nares...	OMIM:618316
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Ohdo Syndrome, X-Linked	Small scrotum, Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Micro...	OMIM:300895
Refsum Disease, Classic	Short fourth metatarsal, Cataract, Congestive heart failure, Anosmia, Cardiomyopathy, Arrhythmia,...	OMIM:266500
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Downturned corners of...	OMIM:156200
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b...	ORPHA:2025
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Postnatal grow...	ORPHA:254531
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Flexion contracture, Microcornea, Lentiglobus, Retinal degener...	ORPHA:90324
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Premature closure of f...	ORPHA:221054
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Prominent nasal bridge, Dental crowding, Abnormality of the dentition, Tap...	ORPHA:65286
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Rhizomelia, Increased f...	OMIM:258315
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i...	ORPHA:3078
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Brachydactyly, Small scrotum, Cataract, Depressed nasal bridge, Rocker ...	OMIM:601353
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Supernumerary nipple,...	OMIM:613884
Monosomy 18P	Short stature, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners o...	ORPHA:1598
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, External ...	ORPHA:96334
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Proportionate short stature, Precocious puberty, Short toe, C...	OMIM:619269
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Tapered finger, Intraventricular hemorrhage, Hydrocepha...	OMIM:613603
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardat...	OMIM:608940
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Short stature, Hypoplastic scapulae, Hypoplastic ilia, Optic disc col...	OMIM:169550
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Abnormal left ventricular function, Pulmonary artery atresia, Micropenis, Hypospadias, Short stat...	OMIM:301056
Moderate Hemophilia A	Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Arthropathy...	ORPHA:169805
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Anteverted nares, Micrognathia, Precocious puberty, Cryptorchidism, Hi...	ORPHA:96092
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Short stature, Sandal gap, Pulmonary arterial hypertension, Long philtrum, Mic...	OMIM:300887
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur...	ORPHA:2063
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Juvenile catarac...	ORPHA:2909
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Genu recurvatum, Short stature, Optic atrophy, Reduced bone mineral density, Do...	ORPHA:1185
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapular winging, ...	OMIM:272460
Clark-Baraitser Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Sand...	OMIM:617752
Trisomy 20P	Micrognathia, Reduced bone mineral density, Downturned corners of mouth, Short philtrum, Microdon...	ORPHA:261318
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Marshall-Smith Syndrome	Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Distal widenin...	OMIM:602535
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, High pa...	OMIM:300232
Three M Syndrome 2	Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Severe short stature, Anteverte...	OMIM:612921
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Anophthalmia, Cleft ala nasi, Dental crowding, Orofacial clef...	ORPHA:2052
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios	ORPHA:254534
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta	ORPHA:1514
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Micropenis, Anteverted n...	OMIM:608156
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Micromelia, Pre...	OMIM:612651
Congenital Varicella Syndrome	Microphthalmia, Cataract, Micromelia, Intrauterine growth retardation	ORPHA:291
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Optic atrophy, Decreased fertility, Hypoplasia of teeth, Microcornea, Growth de...	OMIM:234050
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:616580
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Retinal de...	OMIM:252650
Antley-Bixler Syndrome	Anteverted nares, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness...	ORPHA:83
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec...	ORPHA:955
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Depressed nasal bridge, Hydrocephalus, Polydactyly, Microphthalmia, Smo...	OMIM:602501
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Diabetes mellitus, Short stature, Cryptorchidism, Optic atrophy, Cardiom...	OMIM:249270
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nas...	ORPHA:306542
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, High palate, Broad hallux phalanx, Hypospadias, Short ...	ORPHA:251071
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Large posterior fontanelle, Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow great...	OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Hydrocephalus, Flexion contracture, Microphthalmia, Retinal deg...	OMIM:615249
Norrie Disease	Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Hypoplasia of the iris, Uterine ru...	ORPHA:649
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Fo...	ORPHA:2879
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, E...	ORPHA:2211
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism, Cataract, Optic disc pallor	OMIM:613730
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Cataract, Hypospadias, Single transverse palmar ...	OMIM:123450
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, S...	OMIM:612530
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Cataract, Block vertebrae, Anteverted nares, Pr...	OMIM:304050
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,...	ORPHA:177907
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Abnormal pupil morpholo...	ORPHA:261552
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short stature, Prominent nose, Short middle phalanx of...	OMIM:617926
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla...	OMIM:620099
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Split hand, Wide nasal bridge, Vascular granular osmiophilic material deposition...	OMIM:610127
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micropht...	OMIM:602361
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti...	OMIM:267750
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Wide ...	OMIM:616920
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hip dislocation, Increased T3/T4 ratio, Congenital hypothyr...	OMIM:614450
Dural Sinus Malformation	Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hyd...	ORPHA:97339
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Micrognathia, Microcornea, Knee dislocation, Shoulder dis...	ORPHA:536545
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca...	ORPHA:363958
Noonan Syndrome 13	Micrognathia, High palate, Widely spaced teeth, Microdontia, Joint laxity, Prominent metopic ridg...	OMIM:619087
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Clinodactyly, Downturned corners of mouth, Clitoral hypoplasia, Pulmonary artery at...	OMIM:616894
Wolfram Syndrome 1	Cataract, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Optic atrophy, Limited mobility ...	OMIM:222300
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Spina bifida, Chorioretinal degeneration	OMIM:311000
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Cataract, Tapered finger, Flexion contracture, Hyperextensibility at wrists,...	ORPHA:544503
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Lissencephaly 8	Occipital encephalocele, Cataract, Optic atrophy, Talipes equinovarus, Microphthalmia	OMIM:617255
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia, Cataract	OMIM:278780
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, U-Shaped upper lip vermilion, Hypospadias, Anteverted nares, ...	OMIM:610253
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Hypertension, Ever...	ORPHA:181
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Prominent nasal bridge, Hydrocephal...	OMIM:243605
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia	ORPHA:2717
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Anteverted nares, Short stature, Dental crowding, Persistence of primary teeth, Micrognathia, Thi...	OMIM:618342
Lathosterolosis	Bilobate gallbladder, Micrognathia, Ambiguous genitalia, male, High palate, Thick upper lip vermi...	OMIM:607330
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Anteverted nares, Tented upper lip vermilion, Single transverse palmar cre...	OMIM:616449
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia o...	OMIM:180849
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Tetrasomy 5P	Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Postnatal growth retardation, Cong...	ORPHA:3309
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Hydrocephalus, Supernumerary ribs, Chorioretinal coloboma, Short ...	ORPHA:163961
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ...	ORPHA:1553
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Abnormal external genitalia, Abnormal nostril morphology, Narr...	ORPHA:3469
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Depressed nasal bridge, Promin...	ORPHA:794
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Clinodactyly of the 5th finger, Decreased skull oss...	OMIM:601163
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges ...	OMIM:615630
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Calcaneovalgus deformity, High palate, Micropenis, Depressed nasal bridge, S...	OMIM:612513
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me...	OMIM:608328
Congenital Factor Ii Deficiency	Abnormal bleeding, Prolonged bleeding after dental extraction, Epistaxis, Prolonged bleeding foll...	ORPHA:325
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Cataract, Corneal opacity, Hypoplasia of the maxilla, Bilateral microphthalmos, Recurr...	ORPHA:2399
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Long penis, Wide nasal bridge, Metopic synostosis, Long ph...	OMIM:190440
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverte...	OMIM:614701
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Wide nose, Anophthalmia, Cataract, Anteverted nares, Chorioretinal dysplasia,...	ORPHA:2526
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Protruding tongue, Postnatal ...	OMIM:300963
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Advanced ossification of c...	OMIM:269250
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula...	OMIM:112350
Fryns Syndrome	Tented upper lip vermilion, Hypospadias, Corneal opacity, Anteverted nares, Micrognathia, Median ...	ORPHA:2059
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Dental crowding, Underdevelo...	OMIM:618825
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Prolonged QT interval, Increased bone mineral density, Cataract, Depre...	ORPHA:94089
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Ambiguous...	OMIM:249000
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti...	OMIM:277450
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Short metacarpal, Short stature, Cleft upper lip, Optic atro...	OMIM:201180
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint...	ORPHA:93932
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Depressed nasal bridge, Short st...	OMIM:616723
Silver-Russell Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Sho...	OMIM:180860
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality of the uteru...	ORPHA:567
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Promine...	OMIM:609625
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion contracture, Ab...	OMIM:271665
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridge, Pterygium...	OMIM:256520
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Depressed nasal bridge, Exaggerated cupid's bow, Supernumerary nipple, Single trans...	OMIM:620098
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren...	ORPHA:565
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy...	OMIM:613382
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abdo...	ORPHA:91387
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion...	OMIM:618618
Manitoba Oculotrichoanal Syndrome	Bifid nasal tip, Microphthalmia, Anophthalmia, Broad nasal tip	OMIM:248450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Abnormally large glo...	OMIM:239300
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Anteverted nare...	OMIM:619879
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Premature thelarche, Abnormal hand morphology, Osteolysis involving bone...	ORPHA:371428
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Choanal stenosis, High palate, Bifid uvula, Hypospadias, Anteverted nares, Depress...	OMIM:123790
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Abnormality of the gingiva, High, narr...	ORPHA:3107
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata...	OMIM:616294
Sotos Syndrome	Joint laxity, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, C...	OMIM:117550
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Short stature, Dental crowding, Micrognathia...	ORPHA:813
Encephalopathy Due To Sulfite Oxidase Deficiency	Long philtrum, Short nose, Thick vermilion border, Ectopia lentis	ORPHA:833
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Ankle swelling, Wrist swelling, Retinal pigment epithelia...	ORPHA:448237
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Abnormality ...	OMIM:617406
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Severe short stature, Broad long bones, Micromelia, Increased skull ossificatio...	ORPHA:1422
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk...	OMIM:221900
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cl...	OMIM:309800
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Persistent open anterior fontanelle, Dental crowding, Arachnodactyly, Narrow mouth,...	OMIM:615539
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Short stature, Bilateral single transverse palmar creases, Micrognathia, Type I...	ORPHA:3191
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n...	OMIM:186500
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Decreased calva...	OMIM:259440
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choan...	OMIM:620186
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Short stature, Micrognathia, Tapered finger, Wide nasal bridge, Hypopla...	ORPHA:2479
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short...	OMIM:611717
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Advanced eruption of teeth, Juvenile...	ORPHA:404448
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, V...	ORPHA:959
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre...	OMIM:114290
Desmosterolosis	Increased bone mineral density, Severe short stature, Depressed nasal bridge, Micromelia, Microgn...	ORPHA:35107
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, narrow palate, High pala...	OMIM:214100
Robinow Syndrome, Autosomal Recessive 2	Brachydactyly, Anteverted nares, Short stature, Cleft soft palate, Broad nasal tip, Micrognathia,...	OMIM:618529
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Micrognathia...	OMIM:225410
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Wide nose, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High ...	OMIM:147060
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short metatarsal, Finger clinodactyly, Short philtrum, Micropeni...	ORPHA:2896
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Knee flexion contracture, Macular degeneration, High palate, U...	ORPHA:3132
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Frontonasal Dysplasia 3	Microphthalmia, Wide nasal bridge, Underdeveloped nasal alae	OMIM:613456
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Lip pit, Unicoronal synostosis, Preaxial han...	OMIM:601707
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Prolonged bleeding time, Angulated humerus, Short stature, Recurre...	OMIM:616229
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cryptorchidism, Hea...	ORPHA:2728
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, Hydrocephalus,...	OMIM:300558
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Microcornea, High pala...	OMIM:244450
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Hypospadias...	OMIM:611209
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Cryptorchidism...	ORPHA:2789
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Clinodactyly of the 5th ...	ORPHA:2769
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Microcornea, Short philtrum, Joint contracture of th...	ORPHA:363611
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p...	OMIM:615777
Deafness, X-Linked 7	Unilateral microphthalmos, Wide nasal bridge	OMIM:301018
Alg6-Cdg	Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu...	ORPHA:79320
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Toluene Embryopathy	Short stature, Micrognathia, Tapered finger, Cryptorchidism, Thin vermilion border, Hypoplasia of...	ORPHA:1920
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Anteverted nares, Depressed nasal bridge, Short stature, M...	OMIM:215150
Ring Chromosome 10 Syndrome	Sandal gap, Micrognathia, Tapered finger, Wide nasal bridge, Thin vermilion border, Long philtrum...	ORPHA:1438
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Fetal Trimethadione Syndrome	Hypospadias, Depressed nasal bridge, Micrognathia, High palate, Transposition of the great arteri...	ORPHA:1913
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever...	OMIM:227330
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh...	OMIM:601358
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi...	ORPHA:1352
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Choanal stenosis, High palate, Microdontia, Long...	OMIM:259775
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Delayed cranial suture closure...	OMIM:619383
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Hypergonadotropic hypogonadism, Short stature, Broad nasal tip, Underdeve...	ORPHA:250999
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Mi...	OMIM:615147
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Diabetes mellitus, Subarachnoid hemorrhage,...	ORPHA:36382
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse...	OMIM:601957
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Microphallus, Clinodac...	OMIM:618454
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Smooth philtrum, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Arteria l...	OMIM:618653
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal alae, Postnata...	ORPHA:276432
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Downturned corners of mou...	ORPHA:261494
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Microcornea, High palate, Ecchymosis, Abnormal anter...	OMIM:601776
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Cataract, Heart block, Anosmia, Cardiomyop...	ORPHA:773
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retr...	OMIM:619981
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, ...	OMIM:302960
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Short stature, Prominent nasal brid...	ORPHA:1587
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, Steatorrh...	OMIM:602579
Chops Syndrome	Cataract, Anteverted nares, Short stature, Cryptorchidism, Patent ductus arteriosus, High, narrow...	OMIM:616368
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Hypospadias, Craniosynostosis, Cleft upper lip, Alobar h...	OMIM:615465
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Micrognathia, Optic atrophy, Congenital contracture, High palate, Short...	OMIM:615042
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Anteverted nares, Short stature, Optic neuropathy, Broad femor...	OMIM:619727
Coffin-Siris Syndrome 6	Depressed nasal bridge, Short stature, Broad nasal tip, Micrognathia, High, narrow palate, Deep p...	OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Short stature, Delayed c...	OMIM:618460
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi...	OMIM:619248
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Micromelia, Microcornea, Downturn...	ORPHA:199
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac...	OMIM:614856
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con...	OMIM:248370
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasa...	OMIM:620370
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a...	ORPHA:280200
Neuhauser Syndrome	Osteopenia, Iridodonesis, Depressed nasal bridge, Genu recurvatum, Short stature, Micrognathia, A...	OMIM:249310
Mucopolysaccharidosis Type 3	Adenoiditis, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Thick nas...	ORPHA:581
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Bi...	OMIM:616364
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Tortuous cerebral arteries, Joint laxity, Aortic regurgitation, Corneal opacity, Post...	OMIM:616603
Trichothiodystrophy 1, Photosensitive	Cataract, Short stature, Flexion contracture, Triangular mouth, Telangiectasia, Microcornea, Kera...	OMIM:601675
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Pate...	OMIM:617159
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Wide nose, Cataract, Corneal opacity, Vaginal neoplasm, Short stature, Micr...	ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia,...	OMIM:613150
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Short stature, Micrognathia, Hydrocephalus, Cr...	OMIM:259720
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Alexander Disease	Microcoria, Hydrocephalus	OMIM:203450
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Radial club hand, Preaxial hand polydactyly, Short metatarsal, Wi...	ORPHA:1278
Peters Plus Syndrome	Micromelia, Micrognathia, Microcornea, Abnormal pulmonary vein morphology, Clitoral hypoplasia, W...	ORPHA:709
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Jacobsen Syndrome	Microcornea, Long hallux, Broad columella, Iris coloboma, Broad hallux phalanx, Finger syndactyly...	ORPHA:2308
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers...	OMIM:269150
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Hydrocephalus, Pol...	ORPHA:59315
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur...	OMIM:239000
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Myopic astigmatism,...	OMIM:617802
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Abnormal so...	ORPHA:884
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short...	ORPHA:2751
Mandibuloacral Dysplasia	Dental crowding, Delayed cranial suture closure, Micrognathia, Abnormally large globe, Postnatal ...	ORPHA:2457
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip...	ORPHA:1812
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B...	OMIM:213980
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Micrognathia, Knee flexion contracture, Oligodontia, High palate, Chorioretinal coloboma, Clinoda...	OMIM:210730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve...	OMIM:614643
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95717
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, High palate, Long philtrum, Short nose, Delayed puberty	ORPHA:2598
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno...	OMIM:617952
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, D...	ORPHA:329178
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo...	ORPHA:79500
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasa...	OMIM:613457
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbo...	ORPHA:263463
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Developmental And Epileptic Encephalopathy 28	Anteverted nares, Optic atrophy, Long philtrum, Hand clenching, Retinal degeneration	OMIM:616211
Meier-Gorlin Syndrome 6	Microretrognathia, Severe short stature, Anteverted nares, Decreased response to growth hormone s...	OMIM:616835
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Short stature, Optic atrop...	OMIM:614381
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Neonatal s...	ORPHA:289
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Tricuspid regurgitation, Anteverted nares, Camptodactyly of finger, Short stat...	ORPHA:261211
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Optic atrophy, Recurrent fractures	ORPHA:2773
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormal pupi...	ORPHA:286
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Single transverse palmar crease, Micrognathia, Prominent...	OMIM:620185
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Joint stiffness, Cryptorchidism, Non-...	ORPHA:1752
Acrofacial Dysostosis, Weyers Type	Overlapping fingers, Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Sma...	ORPHA:952
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Rieger anomaly, Hypospadias, Decreased response to growth hormone stimu...	OMIM:180500
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Ectopia lentis	OMIM:272300
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
Coffin-Siris Syndrome	Clinodactyly, Papillary thyroid carcinoma, Thick nasal alae, Joint laxity, Hypospadias, Anteverte...	ORPHA:1465
Opsismodysplasia	Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Joint stiffness, Tap...	ORPHA:2746
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Retinal detachment, Cataract, Short stature, ...	OMIM:308300
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Galloway-Mowat Syndrome 1	Cataract, Short stature, Narrow nasal ridge, Micrognathia, Prominent nose, Optic atrophy, Hypopla...	OMIM:251300
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Prominent superficial veins, Congenital hip dislocation, Bowing of the long bones, Na...	OMIM:612940
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Micropenis, Sho...	OMIM:134780
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
3Mc Syndrome	Supernumerary nipple, Craniosynostosis, Bilateral cryptorchidism, Abnormal nasal morphology, Post...	ORPHA:293843
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Short stature, Abnormality of the dentition, Precocious puberty, Tapered finger, Thi...	ORPHA:261652
Kabuki Syndrome 2	Joint laxity, Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retarda...	OMIM:300867
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Joint hemorrhage, Pr...	ORPHA:98879
Sweeney-Cox Syndrome	Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, 2-5 toe syndactyly, Median c...	OMIM:617746
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Depressed nasal ridge, Holoprosenceph...	ORPHA:672
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Femoral bowing, Anteverted nares, D...	OMIM:618188
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea...	OMIM:151200
Acromesomelic Dysplasia 4	Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R...	OMIM:619636
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Frontofacionasal Dysplasia	Cataract, Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, ...	OMIM:229400
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Cataract, Short stature, Abnormal dental enamel mo...	ORPHA:2238
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Short stature, Delayed closure of the anterior font...	ORPHA:357074
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Cataract, Anteverted nares, Depressed nasal bridge, Sho...	OMIM:181270
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Flexion contractur...	OMIM:613870
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ...	ORPHA:268261
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Dysphagia, ...	ORPHA:2070
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi...	OMIM:143095
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Short stature, Recurrent fractures, Bowed humerus, Thin long bone diaphyses, Intrav...	OMIM:616507
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Depressed nasal bridge, Decreased response to growth hormone stimulation te...	OMIM:614114
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Large fontane...	ORPHA:73230
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania...	ORPHA:136
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Long philtru...	OMIM:219200
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Advanced eruption ...	ORPHA:769
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ...	ORPHA:2588
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Small scrotum, Hypospadias, Depressed nasal bridge, Short s...	OMIM:616734
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, Coxa ...	ORPHA:2834
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Prominent nose, Short metatarsal, Clitoral hypoplasia, Short m...	OMIM:614813
Nephronophthisis 15	Polydactyly, Retinal degeneration	OMIM:614845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Microphthalmia	OMIM:613153
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,...	OMIM:602398
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Recurrent fractures, Abnormal pupil morpho...	ORPHA:1764
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Joint stiffness, Non-mid...	ORPHA:1915
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cataract, Encephalocele, Portal hy...	ORPHA:974
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Short stature, Dental crowding, Micrognathia, Cryptorchidism, ...	OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt...	ORPHA:370959
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Abnormal pupil morphology, Abnormality of the fontanelles or cra...	ORPHA:3374
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Knee flexion contracture, Microphallus, Atten...	ORPHA:468631
Multiple Sulfatase Deficiency	Broad hallux, Anteverted nares, Short stature, Corneal opacity, Hydrocephalus, Broad thumb, Retin...	OMIM:272200
Fg Syndrome 5	Anteverted nares, Hypospadias, Depressed nasal bridge, Diastema, Metopic synostosis, Long philtru...	OMIM:300581
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an...	OMIM:602482
Periventricular Nodular Heterotopia 1	Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger, Clinodactyly	OMIM:300049
Pterygium Colli, Isolated	Short nose	OMIM:177990
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Clinodactyly of the 5th fin...	OMIM:167730
Toriello-Carey Syndrome	Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Patent ductus arterios...	ORPHA:3338
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, High palate, Short philtrum, Clinodactyly of the 5th finger,...	OMIM:309500
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li...	OMIM:601356
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Persistence of primary teeth, Vasculitis, Arthritis, Purpura	ORPHA:375
Mowat-Wilson Syndrome	Bifid scrotum, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Iris coloboma, Hypospadi...	OMIM:235730
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Wide nasal bridge, ...	OMIM:218000
Fetal Gaucher Disease	Depressed nasal bridge, Anteverted nares, Flexion contracture, Intracranial hemorrhage, High pala...	ORPHA:85212
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Cataract, Tapered toe, Tapered finger, Long fingers, Bulbous nose, Dilated cardiomyopat...	OMIM:608836
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Pu...	ORPHA:3342
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Elbow dislocation, Abnormalit...	ORPHA:2538
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, Broad thumb, Smooth philtrum, Br...	OMIM:614526
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia...	OMIM:612289
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Microcytic ...	ORPHA:398063
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Chorioretinal col...	OMIM:280000
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen...	OMIM:614886
Ayme-Gripp Syndrome	Mandibular prognathia, Smooth philtrum, Pericarditis, Thin upper lip vermilion, Depressed nasal b...	OMIM:601088
Miller-Dieker Syndrome	Anteverted nares, Growth delay, Abnormal upper lip morphology, Clinodactyly of the 5th finger, Sh...	ORPHA:531
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Optic nerve hypoplasia	ORPHA:228384
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Lar...	OMIM:157980
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Choroidal neovascularization, Cryptorchidism, Macular degeneration, Congenital bilate...	ORPHA:404451
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, High palate, Clinodactyly of the 5th finger, Syndactyly, Hypospadias, Anteverted na...	OMIM:616975
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,...	OMIM:135900
Smith-Mccort Dysplasia 2	Mandibular prognathia, Enlarged interphalangeal joints, Short metacarpal, Short stature, Broad fe...	OMIM:615222
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Brain Small Vessel Disease 2	Intracranial hemorrhage, Growth delay	OMIM:614483
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Developmental cataract, Decreased calvarial ossification, Bowing of ...	OMIM:259410
2P15P16.1 Microdeletion Syndrome	High palate, Bilateral single transverse palmar creases, Prominent metopic ridge, Tapered finger,...	ORPHA:261349
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, Broad proximal phalanges of the hand, H...	OMIM:607597
Kaposiform Lymphangiomatosis	Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol...	ORPHA:464329
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Shor...	ORPHA:261236
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea...	OMIM:613443
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr...	ORPHA:2470
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Long nose, Hydroce...	OMIM:618590
Senior-Loken Syndrome 9	Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Macular degeneration, Hypogonadism...	OMIM:616629
Larsen Syndrome	Short metatarsal, Knee dislocation, Spina bifida occulta, Joint laxity, Vertebral fusion, Short m...	OMIM:150250
Carey-Fineman-Ziter Syndrome	Anteverted nares, Short stature, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin seq...	ORPHA:1358
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Short stature, Hypoplasia of the maxilla, Clinodactyly, Optic atrophy, ...	OMIM:614261
Alg9-Cdg	Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, Microretrogn...	ORPHA:79328
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Long nose, Oligodontia, Humeral pseudarthrosis, Short...	ORPHA:2044
Monosomy 9P	Proximal placement of thumb, Micrognathia, High palate, Bilateral single transverse palmar crease...	ORPHA:261112
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia	OMIM:611134
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Increased bone mineral density, Severe short stature, Short stat...	OMIM:127000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
Steinfeld Syndrome	Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl...	OMIM:184705
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Congenital contracture, Prominent palatine ridges, Prominent met...	ORPHA:97297
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Kapur-Toriello Syndrome	Hypoplasia of penis, Patent ductus arteriosus, Bulbous nose, Orofacial cleft, Hypoplastic labia m...	ORPHA:2328
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Joint laxity, Wide nose, Anteverted nares, Raynaud phenomenon,...	OMIM:616260
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration	OMIM:300438
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Flexion contracture, Oligodontia, High palate, Short philtrum, Microp...	OMIM:309590
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Pseudopapilledema, Stroke	ORPHA:140989
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cataract, Choanal atresia...	OMIM:603457
Scarf Syndrome	Bifid scrotum, Craniosynostosis, Cryptorchidism, Wide nasal base, Micropenis, Perineal hypospadia...	ORPHA:3134
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi...	ORPHA:99147
Vascular Hyalinosis	Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption	OMIM:277175
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing...	OMIM:223800
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization, Joint hypermobility	OMIM:608895
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand...	ORPHA:56304
Stevenson-Carey Syndrome	Prominent nasal tip, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin sequ...	OMIM:611961
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse palmar cr...	OMIM:229850
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Spina bifida, Underdeveloped nasal alae, Cleft...	ORPHA:894
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Joint laxity, Hypospadias, Short stature, Broad hallux, Cryptorchidism, Supernum...	ORPHA:353281
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f...	ORPHA:508533
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Optic atrophy, Short nose, Retrognathia, Open mouth	OMIM:260565
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Microdontia, Bifid uvula, ...	OMIM:613458
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Abs...	OMIM:609053
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic an...	OMIM:613795
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Widely spac...	OMIM:612474
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal...	ORPHA:1389
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Wormian bones, Radial bowing, Recurrent fractures, Fe...	OMIM:610915
Intellectual Developmental Disorder, Autosomal Recessive 65	Prominent metopic ridge, Hypospadias, Prominent nasal bridge, Supernumerary nipple, Cryptorchidis...	OMIM:618109
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Pancreatic fibrosis, Short stature, Pancreatic cysts, Horizontal ribs, Ea...	OMIM:208500
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Shor...	ORPHA:175
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Maternal diabetes, Micrognathia, Deep phi...	OMIM:300855
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Short philtrum, Holoprosencephaly, Clinod...	ORPHA:1449
Familial Afibrinogenemia	Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival ble...	ORPHA:98880
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Retinal dysplasia, Mi...	OMIM:615665
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent ductus arteriosus, O...	ORPHA:1790
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short stature, Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Abnormality of th...	ORPHA:90154
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Proportionate short stature, Carious teeth, Small han...	OMIM:244460
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, M...	OMIM:261540
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Severe short stature...	OMIM:309900
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Hypoplasia of the thymus, Conjunctivitis, Internal hemorrhage...	ORPHA:906
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Patent ductus arteriosus, Bulbous nose, Absent cupid's b...	ORPHA:284169
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Hamartoma of tongue, Patent ...	OMIM:269860
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusi...	OMIM:610443
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Abnormality of retinal pigmentation, Block vert...	ORPHA:50
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis...	OMIM:619859
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy, Arachnodactyly, Iridocyclitis, Ankle clonus, Hypogonadism, Infertility, Oligomen...	ORPHA:412057
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Optic atrophy, Oligodont...	ORPHA:447896
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Holoprosencephaly 7	Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Iris ...	OMIM:610828
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Choanal stenosis, Short philtrum, High p...	ORPHA:798
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Short s...	ORPHA:1908
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Prom...	OMIM:305450
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Protein-losing enteropathy	OMIM:615863
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Micrognathia, Long fingers, Cleft palate, Microcornea, High palate, Hypop...	OMIM:156610
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Orofacial cleft, Coarctation of aorta, Bifid nose, Chorioretinal col...	ORPHA:268249
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Large posterior fontanelle, Depressed nasal bridge, Thyroid ...	ORPHA:95716
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Wide pe...	ORPHA:3455
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Short stature, Micrognathia, Carious teeth, Joint stiffness...	OMIM:604173
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Severe short stature, Intrauterine growth retardation, Broad ...	OMIM:618724
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Intraventricular hemorrhage,...	OMIM:616430
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth...	OMIM:620250
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the dentit...	ORPHA:77258
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Postnatal g...	OMIM:309000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia...	ORPHA:2166
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, High palate, Short philtrum, Long toe, Hypospadias, Antev...	ORPHA:3063
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Lip pit, Tapered finger, Br...	ORPHA:1236
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ...	ORPHA:2249
Chromosome 2Q37 Deletion Syndrome	Wide nose, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Short stature, Broa...	OMIM:600430
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Decreased serum testosterone concentration, Abnormal metacarpophalangeal joint morph...	ORPHA:465508
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Limited elbow movement, Micrognathia, Proximal placement of thum...	OMIM:610759
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Williams Syndrome	Osteopenia, Hypoplasia of penis, Myocardial infarction, Micrognathia, Abnormal cerebral vascular ...	ORPHA:904
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clin...	OMIM:616145
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met...	ORPHA:1540
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Short me...	OMIM:216340
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Single naris, Megalopapilla,...	OMIM:615636
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Prominent metopic ridge, Hypospadias,...	ORPHA:2745
Cardiospondylocarpofacial Syndrome	Brachydactyly, Severe short stature, High, narrow palate, Mitral regurgitation, Short palm, Failu...	ORPHA:3238
Congenital Fibrosis Of Extraocular Muscles	Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, A...	ORPHA:45358
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration	OMIM:520000
Farber Disease	Abnormality of the knee, CNS foam cells, Corneal opacity, Short stature, Abnormality of the hand,...	ORPHA:333
Jaberi-Elahi Syndrome	Cataract, Depressed nasal bridge, Joint stiffness, Optic atrophy, Triangular mouth, Talipes equin...	OMIM:617988
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares,...	ORPHA:2886
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Long philtrum, Microphthalm...	OMIM:614583
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran...	ORPHA:90795
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus	ORPHA:858
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Craniosynostosis, Limited elbo...	OMIM:265050
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Short nose	OMIM:618828
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Hemochromatosis, Type 1	Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Osteopor...	OMIM:235200
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate shor...	OMIM:602875
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Hypospadias, Short stature,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Hypospadias, Short stature,...	ORPHA:353277
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue...	ORPHA:531151
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Intracranial ...	ORPHA:98878
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Cl...	OMIM:115150
Joubert Syndrome 2	Encephalocele, Depressed nasal bridge, Retinal dystrophy, Postaxial hand polydactyly, Optic disc ...	OMIM:608091
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly...	ORPHA:210548
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Cataract, Sclerocornea, Ovotestis, Junctional ectopic tachycardia,...	OMIM:309801
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Smooth philtrum, Retinal dystrophy, Optic nerve hypoplasia, Convex nasal ridge, Short stature, Cl...	OMIM:619321
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:613805
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Micrognathia, Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of...	OMIM:253280
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, High palate, ...	OMIM:616854
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Micrognathia, Flexion contracture, Osteoporosis, Optic atrophy, Facial ...	OMIM:615851
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High...	OMIM:614188
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Un...	ORPHA:2315
Cardiofaciocutaneous Syndrome	Anteverted nares, Depressed nasal bridge, Short stature, Abnormal morphology of ulna, Cryptorchid...	ORPHA:1340
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Wide anterior fontane...	ORPHA:457279
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology	OMIM:217150
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Spastic Paraplegia 11, Autosomal Recessive	Ankle clonus, Macular degeneration, Retinal degeneration, Thenar muscle atrophy	OMIM:604360
Peho Syndrome	Anteverted nares, Tapered finger, Open mouth, Hydrocephalus, Flexion contracture, Limitation of j...	ORPHA:2836
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Anteverted nares, Decreased heart rate variability, Depressed nasal bridge, Micrognathia, Underde...	OMIM:619005
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Single interphalangeal crease of fifth finger, Supe...	OMIM:257920
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Thi...	OMIM:610015
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Optic...	ORPHA:667
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Depressed nasal ridge, Gingival overgrowth, Femoral bowing, Growth delay, ...	OMIM:248500
Cole-Carpenter Syndrome 1	Osteopenia, Communicating hydrocephalus, Short stature, Recurrent fractures, Micrognathia, Hydroc...	OMIM:112240
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati...	ORPHA:488632
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Hand muscle weakness, Abnormal pupil morphology, Split hand, Anisocoria, Ham...	ORPHA:90658
Trisomy 10P	Micrognathia, Orofacial cleft, High palate, Abnormal hip joint morphology, Absent gallbladder, An...	ORPHA:171929
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Patent ductus arteriosus, Dental malocclusion, Wi...	OMIM:619149
Restrictive Dermopathy 1	Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Hypospadias, Dep...	OMIM:275210
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Depressed nasal bridge, Short stat...	OMIM:300990
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Abnormality of retinal pigmentation, Meningocele, Chorioretinal coloboma	ORPHA:2481
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Dysmenorrhea, Precocious atherosclerosis, Micrognathia, Advanced eru...	ORPHA:280365
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Short stature...	OMIM:610682
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Brachydactyly, Anteverted nares, Prominent nasal bridge, Short stature, Microg...	ORPHA:1974
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Reduced circulating growth hormone concentration, An...	OMIM:613038
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, Cataract, First degree atrioventricular block, Hypogonadism,...	OMIM:160900
Hypertension And Brachydactyly Syndrome	Short metacarpal, Short stature, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Ty...	OMIM:112410
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Hypospadias, Abnormal dental enamel morphology, Tarsal synostosis, Mi...	ORPHA:85199
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Pr...	ORPHA:1225
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Decreased response to growth hor...	ORPHA:1855
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat...	ORPHA:79319
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Ileus, Hepatitis, Lymphaden...	OMIM:304790
Scarf Syndrome	Bifid scrotum, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Micropenis, Perineal hy...	OMIM:312830
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Joint stiffness, ...	OMIM:618820
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Osebold-Remondini Syndrome	Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,...	OMIM:112910
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Joint hemorrhage, Prolonged blee...	ORPHA:328
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Short stature, Optic nerve hypoplasia, Prominent nasal bridge, Broad nasal tip...	OMIM:300749
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Cataract, Depressed nasal bridge	OMIM:612379
Brachydactyly, Type E1	Short metacarpal, Moderately short stature, Short metatarsal, Multiple impacted teeth, Short clav...	OMIM:113300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Irregular menstruati...	OMIM:110100
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Flexion contracture, Ca...	ORPHA:261537
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Chorioreti...	ORPHA:2031
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Cranial h...	ORPHA:330015
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Short metatarsal, High palate, Short metacarpal, Anteverted nares, Depressed nas...	OMIM:617157
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Short stature, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose...	OMIM:615803
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Anteverted nares, Thick lower lip vermilion, Wide nasal bri...	ORPHA:1942
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Microgn...	OMIM:309350
Renal And Mullerian Duct Hypoplasia	Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth ret...	OMIM:266810
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Microcornea, Downturned ...	OMIM:619539
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners...	OMIM:136140
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Tali...	ORPHA:2771
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Cadds	Cataract, Adrenal hypoplasia, Micrognathia, Intrauterine growth retardation, Short nose	ORPHA:369942
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau...	OMIM:272950
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Cataract, Short stature, Corneal dystrophy, Sclerocornea, Abnormality of the...	ORPHA:1806
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Opsismodysplasia	Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Anterior rib ...	OMIM:258480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Dilated cardiomyopathy, Flexion contr...	OMIM:253800
Macrocephaly/Autism Syndrome	Joint laxity, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Hydroce...	OMIM:605309
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow...	OMIM:166200
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de...	OMIM:614069
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni...	OMIM:263750
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Short stature, Recurrent fractures, Metaphyseal widening, Pht...	OMIM:259770
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S...	ORPHA:1772
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Lo...	OMIM:262190
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos...	OMIM:604757
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Short stature, Abnormality of the dentition, Flexion contracture, Limitation of joint m...	ORPHA:90153
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Brachydactyly, Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosu...	ORPHA:1519
Geleophysic Dysplasia 1	Osteopenia, Short palm, Short metacarpals with rounded proximal ends, Wrist flexion contracture, ...	OMIM:231050
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, ...	ORPHA:30391
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs	OMIM:219250
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Postaxial h...	OMIM:264480
Dpagt1-Cdg	Prolonged QT interval, Arachnodactyly, Flexion contracture, Osteoporosis, Optic atrophy, Stroke-l...	ORPHA:86309
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart f...	ORPHA:94080
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Abnormal optic nerve morphology, Hy...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Abnormal optic nerve morphology, Hy...	ORPHA:352665
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the hand, Micrognathia, Abnormality of the dentition,...	ORPHA:476126
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Short stature, Prominent nasal bridge, Fetal intraventricular hemorrhag...	OMIM:618480
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, High...	ORPHA:373
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge...	OMIM:300912
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Flexion contracture, Ca...	ORPHA:2152
Papillorenal Syndrome	Joint laxity, Retinal detachment, Cataract, Short stature, Morning glory anomaly, Lens luxation, ...	OMIM:120330
Rodrigues Blindness	Narrow nasal bridge, Short stature, Sclerocornea, Microcornea, Microphthalmia, Tooth malposition	OMIM:268320
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia, Intrauterine grow...	ORPHA:254528
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti...	OMIM:615948
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po...	ORPHA:79113
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Small scrotum, Prominent metopic ridge, Epistaxis, Single transverse palmar crease, Cr...	ORPHA:495818
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Median cleft lip, Hypoplas...	ORPHA:3186
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Large posterior fontanelle, Depressed nasal bridge, ...	ORPHA:90674
Neonatal Marfan Syndrome	Long toe, Iridodonesis, Tricuspid regurgitation, Arachnodactyly, Micrognathia, Ectopia lentis, Hi...	ORPHA:284979
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa...	OMIM:180900
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage, Osteoporosis, Short stature	OMIM:606054
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Tented upper lip vermilion, Limb joint contracture, Shoulder f...	OMIM:620369
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,...	OMIM:231070
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg...	ORPHA:261144
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Low hanging columella	OMIM:619318
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Malar flatt...	OMIM:616420
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Sanda...	ORPHA:357001
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft palate, Short...	OMIM:614749
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia	OMIM:138930
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Microphthalmia, O...	OMIM:615145
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo...	OMIM:119580
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Multiple joint contractures, Prominent nose, Elevated circulat...	ORPHA:79318
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Recurrent fractures, Reduced bone mineral density, Increased suscept...	OMIM:166220
Trichinellosis	Trismus, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnorm...	ORPHA:863
Cat Eye Syndrome	Short stature, Micrognathia, Absent radius, Patent ductus arteriosus, Cleft palate, Umbilical her...	OMIM:115470
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Depressed nasal bridge, Thin lower lip vermilion, Optic atrophy, Wi...	OMIM:613328
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Cleft palate, H...	OMIM:614080
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered...	OMIM:618430
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Anteverted nar...	OMIM:301044
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitatio...	ORPHA:508542
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Short nose, Clinodactyly	OMIM:618087
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short stature, Hypertension, Short phalanx of finger, Brachydactyly	ORPHA:1276
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p...	OMIM:617140
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi...	ORPHA:324636
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Micrognat...	OMIM:273395
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow...	OMIM:312870
Distal Deletion 15Q	Single transverse palmar crease, Micrognathia, Generalized joint laxity, 2-3 toe cutaneous syndac...	ORPHA:1596
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Cerebral hemorrhage, Knee contracture, Subdural hemorrhage, High palate, J...	OMIM:620278
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, ...	ORPHA:99827
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Cerebral hemorrhage, Hypoplastic philtrum, Precocious puberty, Cryptorchidism, P...	OMIM:616682
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Short stature, Leukocoria, Cleft palate, Microphthalmia	OMIM:257910
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Triphalang...	ORPHA:857
Pierson Syndrome	Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Cardiomyopathy, Short phil...	OMIM:618437
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Cr...	ORPHA:2136
Lethal Congenital Contracture Syndrome 5	Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Thin ribs, Congenital contracture	OMIM:615368
Waardenburg Syndrome, Type 1	Mandibular prognathia, Smooth philtrum, Spina bifida, Underdeveloped nasal alae, Myelomeningocele...	OMIM:193500
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Flexion contracture, Thin ribs, Narrow mouth, Microphthalm...	OMIM:614833
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans...	OMIM:617527
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Limbal dermoid, C...	OMIM:164210
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Microcornea, Anterior synechiae of t...	ORPHA:3214
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Depressed nasal bridge, Short stature, Pulmonary artery stenosis, ...	OMIM:301030
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hydrocephal...	ORPHA:90065
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Spondylometaphyseal Dysplasia, Sedaghatian Type	Large posterior fontanelle, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ...	OMIM:250220
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Cataract, Depressed nasal bridge, Ectopia lentis, Pa...	ORPHA:1571
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Hypoplasia of penis, Anteverted nares, Protruding tongue, Cryptorchidism, C...	ORPHA:96147
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero...	OMIM:175500
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral...	ORPHA:29072
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Smooth philtrum, Sandal gap, Carious teeth, Small hand, 2-3 toe syndac...	OMIM:619229
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, High, narrow palate, Generalized j...	OMIM:619472
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Mi...	ORPHA:314655
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short metacarpal, Short stature, Iliac crest serration, H...	OMIM:607326
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuo...	OMIM:175780
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Short stature, Enlarged labia minora, Gingival fibr...	OMIM:266270
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Hypoplastic iliac...	OMIM:620076
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar...	ORPHA:508488
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Short stature, Proximal placement of thumb, Clinodactyly of the 5th ...	OMIM:620113
1P36 Deletion Syndrome	Hypoplasia of penis, Depressed nasal ridge, Clinodactyly of the 5th finger, Hypothyroidism, Hypos...	ORPHA:1606
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Single t...	ORPHA:521426
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Coxa vara, Inc...	OMIM:610968
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Short stature, Micrognathia, Proximal placement of thumb, Prea...	OMIM:610536
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Thin upper lip vermilion, Short stature, Osteoarthritis, Subdural hemorrha...	OMIM:619714
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Ankle clonus, Macular degeneration, Cataract, Tortuosity of conjunctival vessels	ORPHA:284289
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
C Syndrome	Joint dislocation, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Disloca...	ORPHA:1308
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl...	OMIM:619522
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Male pseudohermaphroditism, Optic disc colobo...	OMIM:600092
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, High palate, Intrauterine growth retardation, Syndactyl...	OMIM:619488
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Patent ductus arteriosus, Recurrent upper respirat...	OMIM:619769
Weiss-Kruszka Syndrome	Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, ...	OMIM:618619
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Anteverted nares, Short stature, Micrognathia, Cleft soft palate, Cryptorchidism, Pa...	ORPHA:2282
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Microphthalm...	OMIM:613001
Deeah Syndrome	Overlapping fingers, Short stature, Anterior pituitary hypoplasia, Decreased heart rate variabili...	OMIM:619004
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum, Shawl scrotum	ORPHA:85277
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Short stature, Recurrent fractures, Abnormal retinal morphology, Persistence of ...	ORPHA:2785
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, High palate, Prominent palatine ridges, Microretrognathia, Anteverted...	ORPHA:280633
Vici Syndrome	Micrognathia, Abnormal thymus morphology, High palate, Median cleft palate, Hypopigmentation of t...	OMIM:242840
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cataract	OMIM:618805
Xeroderma Pigmentosum, Complementation Group B	Cataract, Short stature, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia	OMIM:610651
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Hennekam-Beemer Syndrome	Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Short stature, Micrognathia, Long...	ORPHA:2135
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Abs...	OMIM:606895
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S...	OMIM:619638
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Abnormal optic nerve m...	ORPHA:3226
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Fanconi Anemia, Complementation Group L	Micrognathia, Absent thumb, Absent radius, Hydrocephalus, Wide nasal bridge, Cleft palate, Depres...	OMIM:614083
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Familial Partial Lipodystrophy, Dunnigan Type	Diabetes mellitus, Dysmenorrhea, Congestive heart failure, Secondary amenorrhea, Polycystic ovari...	ORPHA:2348
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar c...	OMIM:601803
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Short stature, Decreased response to gr...	ORPHA:319182
Okamoto Syndrome	Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Anteverted...	ORPHA:2729
Hydranencephaly	Stiff neck, Abnormality of fontanelles, Optic nerve hypoplasia, Abnormal internal carotid artery ...	ORPHA:2177
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Optic atrophy, Hypodontia, Retinal degeneration	ORPHA:442835
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Ulbright-Hodes Syndrome	Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metaca...	ORPHA:3404
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Sub...	ORPHA:79282
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti...	ORPHA:226307
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Overlapping fingers, Short stature, Micrognathia, Protruding tongue, Congestive heart ...	OMIM:608779
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired myocardial cont...	ORPHA:158687
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Smooth philtrum, Anteverted nares, Tented philtrum, Buphthalmos, Keratoconjunctivitis sicca, Abse...	OMIM:618479
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Abnormal pupil morphology	ORPHA:2151
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:369929
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos...	OMIM:600775
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Micropenis	OMIM:308350
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Abnormal optic nerve morphol...	ORPHA:99949
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Short stature, Optic atrophy, Palm...	OMIM:231550
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss...	OMIM:210710
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Carious teeth, Abnormality o...	ORPHA:93
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Early onset of sexual maturation, Microdontia, Clinodactyly of t...	OMIM:194050
Tetrasomy 18P	Large hands, Syncope, Thin vermilion border, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A...	OMIM:613464
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, High palate, Triphalangeal thumb, Spina bifida occulta, Shor...	OMIM:105650
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Nasal congestion, Rod-cone dy...	OMIM:615434
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Galloway-Mowat Syndrome 3	Short stature, Arachnodactyly, Micrognathia, Narrow mouth, Hip dislocation, Coarctation of aorta,...	OMIM:617729
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Protein-losing enteropathy, Decreased liver fu...	OMIM:608104
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Short stature, Cranial hyperostosis, Hypoplastic sweat glands, Oligodontia, Hypodontia	OMIM:601345
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Single transverse palmar crease, High, narrow palate, Short philtrum, High palate,...	OMIM:619475
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Hypothyroidi...	OMIM:607872
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Abnormality of the upper limb,...	ORPHA:624
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Late Infantile Neuronal Ceroid Lipofuscinosis	Astigmatism, Retinal degeneration, Vascular granular osmiophilic material deposition	ORPHA:168491
Genitopatellar Syndrome	Small scrotum, Congenital hip dislocation, Hypoplastic ischia, Micrognathia, Prominent nose, Knee...	OMIM:606170
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Abnormal dental morphology, Micrognath...	ORPHA:369950
Coffin-Siris Syndrome 12	Micrognathia, High palate, Hypothyroidism, Joint laxity, Hypospadias, Anteverted nares, Depressed...	OMIM:619325
Hypercholanemia, Familial 1	Fat malabsorption, Steatorrhea	OMIM:607748
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Development...	OMIM:171300
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Hip dislocation, Wide mouth, Long philtrum, Short nose	OMIM:608776
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Decreased skull ossification, Aplasia/Hypo...	ORPHA:1662
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cryptorchidism, Short...	OMIM:227645
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Usher Syndrome, Type Ig	Rod-cone dystrophy, Hypoplasia of the nasal bone	OMIM:606943
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Corneal opacity...	ORPHA:137675
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Open mouth, ...	OMIM:608013
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Sclerocornea, Dila...	OMIM:300952
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis...	OMIM:603467
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, Cryptorchid...	OMIM:609942
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Short palm, Larg...	ORPHA:198
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Conical tooth, Chorioretinitis, Panuveitis,...	OMIM:301081
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Prolonged bleeding following procedure, Oral ulcer, Gingivitis, Periodontitis, Hypoth...	ORPHA:79259
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	ORPHA:391428
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Disproportionate sh...	OMIM:619131
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract, Stroke-like episode	OMIM:619780
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Protruding tong...	OMIM:242860
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Stormorken Syndrome	Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Stroke-like...	OMIM:185070
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Bulbous nose, Nar...	OMIM:618644
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Growth delay, Microphthalmia, Radial dy...	OMIM:617244
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Cdags Syndrome	Hypospadias, Sagittal craniosynostosis, Large fontanelles, Cleft palate, Rectovaginal fistula, Sh...	OMIM:603116
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Prominent nose, Anisocoria, Downturned corners of mouth, Adrenal insuffi...	OMIM:615510
Parkes Weber Syndrome	Abnormal bleeding, Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cere...	ORPHA:90307
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Bifid uvula, Absent gallb...	ORPHA:500150
Shwachman-Diamond Syndrome	Osteopenia, Delayed eruption of teeth, Sinusitis, Osteomyelitis, Decreased response to growth hor...	ORPHA:811
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Distal Deletion 9P	Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ...	ORPHA:1642
Alg1-Cdg	Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Decreased liver function	ORPHA:79327
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage, Growth delay, Recurrent sinusitis	OMIM:243700
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precocious puberty, Cry...	ORPHA:96191
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Optic atrophy, Micrognathia	OMIM:256600
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Phace Association	Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ...	OMIM:606519
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit...	ORPHA:99413
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n...	OMIM:619426
Mosaic Monosomy X	Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit...	ORPHA:99228
Monosomy X	Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit...	ORPHA:99226
Turner Syndrome	Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Reduced bone mineral densit...	ORPHA:881
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn...	OMIM:602499
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormal limb bone morphology, Abnormality of macular pigmentation, Short s...	ORPHA:1573
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon...	OMIM:619503
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cry...	OMIM:227650
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ...	ORPHA:90362
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, 11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Abn...	ORPHA:50810
Hunter-Macdonald Syndrome	Pseudoepiphyses, Short philtrum, Clinodactyly of the 5th finger, Hypospadias, Short stature, Pate...	OMIM:611962
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
D-Bifunctional Protein Deficiency	Osteopenia, Depressed nasal bridge, Micrognathia, Split hand, Primary adrenal insufficiency, Larg...	OMIM:261515
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	OMIM:235255
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Geleophysic Dysplasia 2	Smooth philtrum, Thin upper lip vermilion, Short palm, Short stature, Tricuspid stenosis, Joint s...	OMIM:614185
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Anteverted nares, Epispadias, Growth delay, Abnormal conj...	ORPHA:3339
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Partial anosmia, Anosmia, Anisocoria, Abnormal verteb...	ORPHA:247245
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Postaxial h...	OMIM:236680
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom...	OMIM:120200
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr...	ORPHA:210122
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia	OMIM:616538
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Fractures of the long bones, Optic atrophy, Pigmentary retino...	ORPHA:157850
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovasculari...	OMIM:264800
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con...	OMIM:300424
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Patent ductus arteriosus, Thin ribs, Bradycardia, Petechiae	OMIM:617397
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cryptorchidism, Paten...	OMIM:227646
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Cryptorchidism, Short...	OMIM:600901
Meningioma	Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro...	ORPHA:2495
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni...	ORPHA:1071
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatosis of radius, Abnormal...	ORPHA:99646
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Chylomicron Retention Disease	Elevated hepatic transaminase, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrh...	ORPHA:71
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Mosaic Trisomy 16	Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation	ORPHA:1708
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Diabetes insipidus, Proboscis, Adrenal hypo...	OMIM:157170
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Catara...	ORPHA:90349
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:731
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral...	ORPHA:276621
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Phace Syndrome	Cataract, Optic nerve hypoplasia, Cerebral arteriovenous malformation, Sclerocornea, Hypothyroidi...	ORPHA:42775
Arachnoid Cyst	Encephalocele, Subarachnoid hemorrhage, Abnormality of the endocrine system, Hydrocephalus, Holop...	ORPHA:2356
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Transient ischemic attack, Ankle swelling, Supraventricular arrhythmia, Pulmonary ...	ORPHA:3260
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Craniosynostosis, Moyamoya phenomenon	ORPHA:401986
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu...	OMIM:616602
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Diffuse telangiectasia, Concave nasal ridge, High palate, S...	OMIM:170100
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Joint stiffness, Conge...	ORPHA:505248
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Hypospadias, Short stature, Cryptorchidism, Gout, Wide mouth, High palate...	OMIM:300661
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Cog1-Cdg	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Micrognathia, Postnatal growth...	ORPHA:263508
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Abnormally large globe, Micrognathia, Underdevel...	ORPHA:435628
Nephronophthisis 11	Anisocoria, Growth delay, Retinal degeneration	OMIM:613550
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus	ORPHA:99811
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Short stature, Palmoplantar keratoderma, Hypodontia, Enamel hypoplasia	OMIM:616029
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Patent ductus arteriosus, Limitation of joint mobility, Osteoporosis, La...	OMIM:259100
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate	ORPHA:261272
Lymphedema-Distichiasis Syndrome	Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Corneal ul...	OMIM:153400
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw, Bowin...	ORPHA:199276
Revesz Syndrome	Leukocoria, Exudative retinopathy, Intrauterine growth retardation, Megalocornea, Oral leukoplakia	OMIM:268130
Adenylosuccinase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Growth delay, Wide mouth, Lo...	OMIM:103050
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Low anterior hairline, Low posterior hairline, Macrog...	OMIM:618440
Immunodeficiency 49	Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Wormian bones, Umbilical he...	OMIM:617237
Kagami-Ogata Syndrome	Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios	ORPHA:254519
Parietal Foramina 1	Wormian bones, Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ...	ORPHA:231625
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se...	OMIM:157640
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Choanal stenosis, Micropenis,...	ORPHA:83617
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo...	ORPHA:3353
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Prominent nasal tip, Small scrotum, Thin upper lip vermilion...	OMIM:620330
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth, Breast ...	ORPHA:1231
Trichohepatoenteric Syndrome 1	Short stature, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Intra...	OMIM:222470
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Retinal degeneration	OMIM:616896
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas...	ORPHA:1655
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Finger syn...	ORPHA:1433
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp...	OMIM:300755
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Synophrys, Protein-losing enteropathy	OMIM:618154
Glutaryl-Coa Dehydrogenase Deficiency	Joint dislocation, Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Short stature, Broad nasal tip, Wide nasal bridge, Cleft palate, Shor...	OMIM:614207
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Orofaciodigital Syndrome Iii	Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol...	OMIM:258850
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Deep philtrum, Abnormality of the adrenal glands	ORPHA:289483
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Intraventricular hemorrhage, Telangiectasia, Arthriti...	ORPHA:420741
Neurooculorenal Syndrome	Iris atrophy, Ectopic posterior pituitary, Decreased circulating cortisol level, Short hallux, Mi...	OMIM:620305
Dihydropyrimidinase Deficiency	Growth delay, Short phalanx of finger, Talipes equinovarus	OMIM:222748
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Absent toe, Short metatarsal, Fibular hypopl...	OMIM:228900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Venous insufficiency, Osteoarthritis, Abnormality of the gingiva, Gingivitis, ...	ORPHA:285
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Alport Syndrome	Posterior subcapsular cataract, Renal glomerular foam cells, Abnormal corneal endothelium morphol...	ORPHA:63
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Hypoplastic sweat glands, Cleft palate, Palmar hyperlinearity, Concave nasal ridge, ...	OMIM:617337
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Osteopetrosis	OMIM:615085
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Hypoplasia of the uterus, Microphthalmia, Vaginal atresia,...	OMIM:617914
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Short stature, Tapered finger, Flexion contrac...	OMIM:301072
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Wide mouth, Astigmatism, Short nose, Joint hypermobility	ORPHA:293948
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Elevat...	OMIM:263400
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T...	ORPHA:494424
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Sotos Syndrome	No permanent dentition, Flexion contracture, Hypothyroidism, Joint laxity, Hypospadias, Cryptorch...	ORPHA:821
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy	ORPHA:103910
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Aortic regurgitation, Corneal opacity, Genu recurvatum, Delayed cranial...	ORPHA:90348
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea	OMIM:246700
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Abetalipoproteinemia	Fat malabsorption, Acanthocytosis	OMIM:200100
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Bifid ribs, Shor...	ORPHA:1394
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar keratoderma, Palmoplantar h...	ORPHA:2309
Bone Marrow Failure Syndrome 5	Short stature, Growth delay, Hypogonadism, Testicular atrophy, Oral leukoplakia	OMIM:618165
Dend Syndrome	Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis	OMIM:611376
Aceruloplasminemia	Abnormality of retinal pigmentation, Diabetes mellitus, Congestive heart failure, Abnormal pancre...	ORPHA:48818
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth,...	OMIM:619179
Cherubism	Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar...	OMIM:118400
Molybdenum Cofactor Deficiency, Complementation Group B	Ectopia lentis, Lens luxation, Growth delay, Thick vermilion border, Long philtrum, Short nose	OMIM:252160
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ...	ORPHA:1666
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Molybdenum Cofactor Deficiency, Complementation Group A	Ectopia lentis, Lens luxation, Growth delay, Thick vermilion border, Long philtrum, Short nose	OMIM:252150
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Metopic synostosis, Narrow mouth, Short nose	OMIM:613735
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Abnormality of the endocrine s...	OMIM:129550
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, ...	OMIM:107480
Isolated Exencephaly	Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto...	ORPHA:563612
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo...	OMIM:305100
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis	OMIM:614328
Joubert Syndrome 6	Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma	OMIM:610688
Whim Syndrome	Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ...	ORPHA:51636
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Cog8-Cdg	Elevated hepatic transaminase, Protein-losing enteropathy	ORPHA:95428
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Lesch-Nyhan Syndrome	Short stature, Podagra, Hip dislocation, Testicular atrophy	OMIM:300322
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Occipital encephalocele, Hypospadias, Choanal atresi...	OMIM:192350
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus, Delayed cranial suture closure	ORPHA:616
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ...	OMIM:278730
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett...	ORPHA:90291
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardat...	ORPHA:79284
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Gaucher Disease, Type I	Epistaxis, Macular atrophy, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, ...	OMIM:230800
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
Infant Botulism	Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis	ORPHA:178478
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Type II diabetes mellitus, Mydriasis	ORPHA:247815
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Microphthalmia, Ethmocephaly	OMIM:236100
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ...	ORPHA:64
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mout...	OMIM:617666
Aceruloplasminemia	Diabetes mellitus, Retinal degeneration	OMIM:604290
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 ...	ORPHA:522077
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Talip...	OMIM:617821
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Prolonged QRS complex, Decreased response to growth hormone stimulati...	ORPHA:273
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Cataract, Abnormality of the dentition, Hypertension, Breast aplasia, ...	ORPHA:2036
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Pulmonary artery stenosis, ...	OMIM:100300
Odontomicronychial Dysplasia	Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit...	ORPHA:1811
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Testicular atrophy, Oral leukoplakia	OMIM:613987
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Retinoblastoma	Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, P...	OMIM:180200
Wound Botulism	Cardiac arrest, Mydriasis	ORPHA:178475
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Facial Spasm	Anisocoria	OMIM:134300
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Cataract, Pulmonary arteriovenous malformation, Narrow nasal ridge, Larg...	OMIM:606721
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Dental crowding, Delayed eruption of primary teeth, Growth delay, Astigmatism, Wid...	OMIM:617799
Botulism	Arrhythmia, Mydriasis	ORPHA:1267
Gardner Syndrome	Neoplasm of the pancreas, Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary t...	ORPHA:79665
Intestinal Botulism	Mydriasis	ORPHA:178481
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Foodborne Botulism	Arrhythmia, Mydriasis	ORPHA:228371
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension, Mydriasis	ORPHA:43116
Scorpion Envenomation	Bundle branch block, Tachycardia, Mydriasis, Cardiac conduction abnormality, Congestive heart fai...	ORPHA:466677
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft...	OMIM:154500
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Growth delay, Adenoma sebaceum, Microphthalmia, Iris coloboma	ORPHA:2612
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi...	ORPHA:512
Arteriosclerosis, Severe Juvenile	Central fundal arteriolar microaneurysms, Short stature, Myocardial infarction, Central retinal v...	OMIM:208060
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Depressed nasal bridge, Macular atrophy, Wide nasal bridge, Primary amenorrhea...	OMIM:619418
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra...	ORPHA:363618
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Pancreatic cysts, Polydactyly, Rod-cone dystrophy, Vascular d...	OMIM:616307
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Inhalational Botulism	Mydriasis	ORPHA:254504
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Intrauterine growth retardation	OMIM:619055
Alternating Hemiplegia Of Childhood	Exaggerated cupid's bow, Cardiac conduction abnormality, Downturned corners of mouth, Cardiomyopa...	ORPHA:2131
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis, Oral leu...	OMIM:167210
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Familial Adenomatous Polyposis 1	Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Congenital hypertrophy of retinal p...	OMIM:175100
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the dentition, Abnormality of the thyroid gland, Supern...	ORPHA:733
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Peroxisome Biogenesis Disorder 4B	Retinal dystrophy, Single transverse palmar crease, Optic atrophy, Adrenal insufficiency, Short n...	OMIM:614863
Zygomycosis	Gastrointestinal hemorrhage, Brain abscess, Gastritis, Hematemesis, Mediastinal lymphadenopathy, ...	ORPHA:73263
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lymphoc...	OMIM:619991
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Retinal degeneration	ORPHA:2822
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage...	OMIM:265380
Enamel-Renal Syndrome	Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ...	ORPHA:1031
Plague	Abnormal bleeding, Chapped lip, Tachycardia, Mydriasis, Hematemesis, Abnormality of the elbow, Ar...	ORPHA:707
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal libido, Priapism	ORPHA:139417
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Beckwith-Wiedemann Syndrome	Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia	ORPHA:116
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Thoracic aortic aneurysm, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary arter...	OMIM:619351
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Penile Agenesis	Depressed nasal bridge, Maternal diabetes, Cryptorchidism, Bilateral talipes equinovarus, Absent ...	ORPHA:49
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Cryptorchidism, Protein-losing enteropathy	OMIM:618183
Familial Cerebral Cavernous Malformation	Venous malformation, Choroidal hemangioma, Retinal cavernous angioma, Cerebral hemorrhage	ORPHA:221061
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration	ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration	OMIM:234200
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Congestive heart failure, Macular degeneration, Abnormal fundus morphology	ORPHA:94147

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.

There is no histopathology data for Alkbh1

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 Alkbh1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
N6-methyladenine in DNA antagonizes SATB1 in early development.	Nature (July 2020)	Alkbh1^{tm1c(EUCOMM)Hmgu} Alkbh1^{tm1a(EUCOMM)Hmgu}	32669713

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Alkbh1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Alkbh1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Alkbh1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

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: Alkbh1 MGI:2384034

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

X-ray

X-ray

Human diseases caused by Alkbh1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data