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Gene: Cplane1 MGI:1920942

Gene Summary

Name:

ciliogenesis and planar polarity effector 1

Synonyms:

b2b012Clo, Jbts17, Hug, 2410089E03Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal eye morphology		Cplane1^em1(IMPC)Tcp	HOM		E12.5	0.00
preweaning lethality, complete penetrance		Cplane1^em1(IMPC)Tcp	HOM		Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

2 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cplane1 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 Cplane1 (5 diseases)
Human diseases predicted to be associated with Cplane1 (2299 diseases)

The table below shows human diseases associated to Cplane1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Orofaciodigital Syndrome Type 6	Renal hypoplasia/aplasia, Mesoaxial polydactyly, Abnormal oral frenulum morphology, Abnormal hear...	ORPHA:2754
Joubert Syndrome 17	Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Joubert Syndrome	Situs inversus totalis, Orofacial cleft, Aganglionic megacolon, Encephalocele, Abnormal form of t...	ORPHA:475
Monomelic Amyotrophy	Distal upper limb amyotrophy, Abnormality of the upper limb	ORPHA:65684

The table below shows human diseases predicted to be associated to Cplane1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestin...	OMIM:265380
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormality of the vertebral column, Renal...	ORPHA:294975
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, ...	ORPHA:97360
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Intestinal malrotation, Syndactyly, Short distal phalanx of finger, Ove...	OMIM:300963
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Trunc...	ORPHA:401935
Verheij Syndrome	Retrognathia, Intrauterine growth retardation, Long philtrum, Short 5th finger, Clinodactyly, Hip...	OMIM:615583
Ritscher-Schinzel Syndrome 1	Single umbilical artery, Hypospadias, Dandy-Walker malformation, Hemivertebrae, Anal atresia, Mis...	OMIM:220210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Abnormal lung lobation, High, narrow palate, Renal hy...	ORPHA:2516
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Kyphosis, Intestinal malrotation, Pulmonic ste...	ORPHA:7
Emanuel Syndrome	Dental crowding, Kyphosis, Intestinal malrotation, Pulmonic stenosis, Aortic valve stenosis, Recu...	OMIM:609029
Cardioacrofacial Dysplasia 2	Left superior vena cava draining to coronary sinus, Atrioventricular canal defect, Clinodactyly o...	OMIM:619143
Recombinant Chromosome 8 Syndrome	Pectus excavatum, Pulmonic stenosis, Anteverted nares, Scoliosis, Abnormality of the dentition, C...	OMIM:179613
Emanuel Syndrome	Kyphoscoliosis, Breech presentation, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, B...	ORPHA:96170
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Ascites, Unilateral cleft lip, Thoracic hypoplasia, Intrauterine growth retardation, ...	OMIM:616897
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,...	OMIM:231060
Ellis-Van Creveld Syndrome	Disproportionate short-limb short stature, Hypoplastic iliac wing, Pectus carinatum, Short long b...	OMIM:225500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Atrial septal defect, Preaxial polydactyly, Unilateral renal agenesis, High palate,...	OMIM:618142
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormal form of the vertebral bodies,...	ORPHA:3098
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Long thorax, Hypoplasi...	OMIM:619142
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, A...	OMIM:306955
Trisomy 13	Bilateral single transverse palmar creases, Kyphosis, Multiple renal cysts, Long philtrum, Intrau...	ORPHA:3378
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Encephalocele, 11 pairs of ribs, 2-3 toe syndactyly, Hemivertebr...	OMIM:264480
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pectus excavatum, Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Hypospadias, ...	OMIM:618316
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Partial anosmia, Aortic regur...	ORPHA:2326
8P23.1 Duplication Syndrome	Wide nose, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Thick vermilion border, Long p...	ORPHA:251076
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Scoliosis, Glossoptosis, Pectus excavatum, Oral synechia, Radial ...	ORPHA:1388
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Short long bone, Short ribs, Absent nasal bridge, Esophageal divert...	OMIM:617925
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spondylolisthesis, Sandal gap, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pu...	OMIM:617877
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion, Pulmonic stenosis, Short stature, Hand polydactyly, Patent ductus ar...	OMIM:249670
Van Esch-O'Driscoll Syndrome	Retrognathia, Cerebellar atrophy, Tracheoesophageal fistula, Bifid uvula, Wide mouth, Intrauterin...	OMIM:301030
Temple-Baraitser Syndrome	Pseudoepiphysis of the thumb, Proximal placement of thumb, Wide nose, Gastroesophageal reflux, Th...	OMIM:611816
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Single umbilical artery, Aganglionic megacolon, Atrioventricular canal d...	ORPHA:210122
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Long nose, Left-to-right shunt, Abnormal heart morphology, Overlapping toe, Abnorma...	ORPHA:363444
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f...	OMIM:619343
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Retrognathia, Anteverted nares, Dandy-Walker malformation, Hypertrophic ca...	OMIM:612938
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Hyperlordosis, Arachnodactyly, Premature birth, Short distal phalanx of finger, Intra...	ORPHA:261330
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Overlapping toe, Sacral dimple, Shor...	ORPHA:435638
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Intestin...	OMIM:263520
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Lethal Congenital Contracture Syndrome 10	Femoral bowing, Short long bone, Cardiomegaly, Adducted thumb, Intrauterine growth retardation, L...	OMIM:617022
Mulibrey Nanism	Dental crowding, Ascites, Hypoplastic frontal sinuses, Cardiomegaly, Intrauterine growth retardat...	OMIM:253250
Carpenter Syndrome 1	Flared iliac wing, Agenesis of permanent teeth, Pulmonic stenosis, Duplication of the proximal ph...	OMIM:201000
Meier-Gorlin Syndrome 7	Dislocated radial head, Clubbing, Second degree atrioventricular block, Hypospadias, Scoliosis, C...	OMIM:617063
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Abnormal fetal nasal bone visualization, Broad palm, Clinodac...	OMIM:190685
19P13.12 Microdeletion Syndrome	Sandal gap, Kyphosis, Long philtrum, Intrauterine growth retardation, Deep palmar crease, Hypospa...	ORPHA:254346
Pallister-Hall Syndrome	Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda...	OMIM:146510
Mosaic Trisomy 9	Rocker bottom foot, Hypoplasia of penis, Intestinal malrotation, Multiple renal cysts, Intrauteri...	ORPHA:99776
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran...	ORPHA:3384
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Urinary incontinence, Polyhydramnios, Gastroesophageal reflux, Aortic aneurys...	OMIM:620070
Mucopolysaccharidosis, Type X	Broad clavicles, Hyperlordosis, Dermatan sulfate excretion in urine, Aortic valve stenosis, Left ...	OMIM:619698
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviation of the 5th toe...	ORPHA:1692
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Premat...	OMIM:134780
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Myelomeningocele, Hypoplastic frontal sinuses, Anodontia, Abnorm...	ORPHA:90652
Trisomy 1Q	Arachnodactyly, Hydrops fetalis, Short thorax, Increased nuchal translucency, Cleft palate, Paten...	ORPHA:261344
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall...	OMIM:217085
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicouret...	ORPHA:1166
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal lung lobation, Abno...	ORPHA:2631
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Pulmonic stenosis, Premature birth, Long philtrum, Coxa valga, Long...	OMIM:608149
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Congestive heart failure, Abnormal thumb morphology, Atrial flutter, Mandibular p...	ORPHA:324410
Acrocardiofacial Syndrome	Hypoplasia of penis, Split foot, Intrauterine growth retardation, Hypospadias, Abnormal metacarpa...	ORPHA:2008
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m...	ORPHA:185
Hadziselimovic Syndrome	Thick lower lip vermilion, Anteverted nares, Ventricular hypertrophy, High palate, Pulmonary arte...	OMIM:612946
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Cleft palate, Short distal phalan...	OMIM:601355
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, Retrognathia, Perimembranous ventricular septal defect, Musc...	OMIM:618804
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Pectus excavatum, Abnormal heart morphology, Dys...	ORPHA:508488
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv...	OMIM:200990
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Urinary incontinence, Genu valgum, Short philtrum, Accessory oral frenulum,...	OMIM:617927
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Clinodactyly of the 5th finger, Abnormal heart valve morphology, Dental crowding, High palate, Ab...	ORPHA:2868
Atelosteogenesis, Type Ii	Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Dumbbell-shaped fem...	OMIM:256050
Hamamy Syndrome	Everted lower lip vermilion, Pectus excavatum, Wide mouth, Syndactyly, Prolonged QRS complex, Lon...	OMIM:611174
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Pectus excavatum, Broad thumb, Bicuspid aortic valve, Short 5th finger, Long philtrum, Overlappin...	ORPHA:508498
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Pulmonic stenosis, Intrauterine growth retardation, Megarectum,...	OMIM:301056
Fryns Syndrome	Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtrum, Short distal ...	ORPHA:2059
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Femoral retroversion, Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Cerebel...	OMIM:616531
Skraban-Deardorff Syndrome	Hyperplasia of the maxilla, Absent cupid's bow, Widely spaced teeth, Anteverted nares, Right aort...	OMIM:617616
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Hypoplasia of the maxilla, Ara...	ORPHA:96129
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Short stature, Cleft palate, Malar flattening, Smooth philtrum, Intrauterine ...	OMIM:611867
Pallister-Hall-Like Syndrome	Short nose, Occipital encephalocele, Chiari type I malformation, Short ribs, Postaxial hand polyd...	OMIM:241800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Abnormality of the hand, Urinary incontinence, Clinodactyly of the 5th finger, Dental...	ORPHA:476126
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale	OMIM:261800
Partial Atrioventricular Septal Defect	Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ...	ORPHA:1330
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Hypoplastic isc...	OMIM:200600
Microphthalmia, Syndromic 12	Retrognathia, Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Cleft palate, Broad ...	OMIM:615524
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Short nose, Rhizomelia, Aortic regurgitation, Clinodactyly of the 5th fin...	OMIM:614114
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv...	OMIM:616300
Joubert Syndrome 18	Kyphoscoliosis, Retrognathia, Occipital encephalocele, Bowing of the long bones, Renal cyst, Camp...	OMIM:614815
Adams-Oliver Syndrome 6	Esophageal varix, Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypopla...	OMIM:616589
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Patent ductus arteriosus, Ventricular hypertrophy, Growth dela...	OMIM:612561
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Short finger, Polyhydramnios, Thin ribs, Depressed nasal ridge, Cleft upper li...	OMIM:312150
Cardiac-Valvular Ehlers-Danlos Syndrome	Kyphoscoliosis, Sandal gap, Dental crowding, Pectus excavatum, Mitral valve prolapse, Left ventri...	ORPHA:230851
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,...	OMIM:617926
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Everted lower lip vermilion, Pectus excavatum, Wide mo...	OMIM:212066
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Abnorma...	ORPHA:2701
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short long bone, Short ribs, Ascites, Intestinal malrotation, Intrauterine growth re...	OMIM:269860
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal sternum morphology, Kyphosis, Arachnodactyly, Lon...	OMIM:248700
Burn-Mckeown Syndrome	Thin vermilion border, Bilateral choanal atresia, Unilateral renal agenesis, Short philtrum, Bila...	OMIM:608572
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Scoliosi...	OMIM:212780
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Radial deviation of finger, Kyphosis, Umbilical hernia, Clinodactyly, Coxa valga,...	OMIM:301040
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, ...	ORPHA:3304
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Hypospadias, Narrow mouth, Broad thumb, Short stature, Velopharyngeal insuff...	OMIM:300978
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Short ribs, Microdontia, Ascites, Mesomelia, Syndactyly, S...	OMIM:614091
Dyssegmental Dysplasia, Silverman-Handmaker Type	Short long bone, Short ribs, Hypoplastic ischia, Abnormal heart morphology, Severe short stature,...	ORPHA:1865
Achondrogenesis Type 1B	Short nose, Disproportionate short stature, Hydrops fetalis, Polyhydramnios, Narrow chest, Short ...	ORPHA:93298
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, Intrauterine gr...	ORPHA:2886
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,...	OMIM:143095
Periventricular Nodular Heterotopia	Aortic regurgitation, Gastroesophageal reflux, Aortic aneurysm, Abnormal heart valve morphology, ...	ORPHA:98892
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal nostril morphology, Retrognathia, Broad finger, Moyamoya phenomenon, Postnatal growth re...	OMIM:300845
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypopla...	OMIM:616894
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Hand polydactyly, Cleft palate, Renal hypoplasia, Hypoplastic le...	OMIM:236110
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Abnormality of the upper limb, Ascites, Intrauterine growth retardation, Ap...	ORPHA:1052
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Unilateral renal agenesis, Short thorax, Anomalous origin of left coronary artery ...	OMIM:618845
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Pulmonic stenosis, Severe short stature, Intrauter...	OMIM:601186
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Palpebral edema, Short long bone, Flat acetabular roof, Pectus excavatum, Flared...	OMIM:252500
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Cerebellar atrophy, Intrauterine growth retardation, Adducted thumb, Perimembranous...	OMIM:608779
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hydrops fetalis, Anteverted nares, Gingival overgrowth, High palate, As...	OMIM:269920
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Hyperextensibility of the fin...	OMIM:609008
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ...	ORPHA:1354
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Abnormal lung lobation, Polyhydramnios, Polycystic ki...	OMIM:263210
Leopard Syndrome 1	Kyphoscoliosis, Limited elbow movement, Delayed puberty, Pectus carinatum, Pectus excavatum, Pulm...	OMIM:151100
Arterial Tortuosity Syndrome	Pectus carinatum, Ventricular hypertrophy, Hypertension, Aortic tortuosity, Pectus excavatum, Aor...	OMIM:208050
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Penoscrotal transp...	OMIM:619148
Polyvalvular Heart Disease Syndrome	Short philtrum, Dental crowding, Abnormal heart valve morphology, High palate, Tricuspid regurgit...	ORPHA:228410
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Absent tibia, Intestinal malrotatio...	OMIM:613091
Zttk Syndrome	Breech presentation, Kyphosis, Bifid uvula, Cervical ribs, Intrauterine growth retardation, Aorti...	OMIM:617140
Mosaic Trisomy 16	Meckel diverticulum, Abnormal heart morphology, Wide mouth, Syndactyly, Premature birth, Intraute...	ORPHA:1708
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Mesomelia, Premature birth, Abnormal epiphysis mor...	ORPHA:50945
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Abnormal nasal base norphology...	ORPHA:1919
Coffin-Lowry Syndrome	Pectus carinatum, Everted lower lip vermilion, Short metacarpal, Kyphosis, Pectus excavatum, Thic...	OMIM:303600
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm...	OMIM:613854
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Pectus carinatum, Thoracic kyphoscoliosis, Pect...	OMIM:618371
Seckel Syndrome 9	Polyhydramnios, Recurrent respiratory infections, Recurrent urinary tract infections, Pulmonary a...	OMIM:616777
Diaphanospondylodysostosis	Enlarged kidney, Absent fetal nasal bone, Unossified sacrum, Thoracic hypoplasia, Intrauterine gr...	OMIM:608022
Achondrogenesis Type 1A	Short nose, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Anteverted nares, Microm...	ORPHA:93299
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Double Outlet Right Ventricle	Tachycardia, Truncus arteriosus, Narrow mouth, Pulmonary artery atresia, Intestinal malrotation, ...	ORPHA:3426
Mmep Syndrome	Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Split foot, Ventricular septal defec...	ORPHA:3434
Kleefstra Syndrome 1	Hypospadias, Gastroesophageal reflux, Talipes equinovarus, Anteverted nares, Mandibular prognathi...	OMIM:610253
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Everted lower lip vermilion, Kyphosis, Pectus excava...	OMIM:610443
Cardiac Diverticulum	Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm...	ORPHA:1686
Noonan Syndrome 11	Palmoplantar cutis laxa, Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short ...	OMIM:618499
Cat Eye Syndrome	Meckel diverticulum, Intestinal malrotation, Pulmonic stenosis, Umbilical hernia, Absent radius, ...	OMIM:115470
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Flared ...	OMIM:215045
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Ectopic kidney, Hypoplastic iliac wing,...	OMIM:235510
Monosomy 13Q34	Postaxial hand polydactyly, Pulmonic stenosis, Common atrium, Micrognathia, Growth delay, Broad n...	ORPHA:96168
Lessel-Kreienkamp Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Gastroesophageal reflux, Patent foramen ova...	OMIM:619149
Hurler Syndrome	Cardiomyopathy, Microdontia, Dermatan sulfate excretion in urine, Flared iliac wing, Kyphosis, Bi...	OMIM:607014
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Retrognathia, Sandal gap, Enlarged thorax, Everted lo...	ORPHA:261349
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Proximal placement of thumb, Tracheoesophageal fistula, Short humerus, Absent ra...	OMIM:314390
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Gastroesophageal reflux, Sandal gap, Short 2nd finger, ...	OMIM:600987
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Dental crowding, Nephrocalcinosis, Mitral valve prolapse, Long philtrum, Overlapp...	OMIM:617402
Mosaic Variegated Aneuploidy Syndrome 1	Pulmonic stenosis, Long philtrum, Intrauterine growth retardation, Oligohydramnios, Hypospadias, ...	OMIM:257300
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Bicuspid aor...	OMIM:610759
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormality of the kidney, Polyhydramnios, Abnormal ilium morphol...	ORPHA:2655
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Descending thoracic aorta aneurysm, Abnormal sternum morphology, Hypertension, Arac...	ORPHA:91387
Distal Deletion 15Q	Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ...	ORPHA:1596
Alg12-Cdg	Proximal placement of thumb, Sandal gap, Short long bone, Intestinal malrotation, Premature birth...	ORPHA:79324
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Glossoptosis, Pectus excavatum, Intrauterine growth reta...	OMIM:311900
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficie...	ORPHA:1909
Grange Syndrome	Aortic regurgitation, Hypertension, Short palm, Syndactyly, Arterial stenosis, Patent ductus arte...	ORPHA:79094
Frontonasal Dysplasia 1	Short columella, Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypop...	OMIM:136760
Keutel Syndrome	Hypertension, Pulmonic stenosis, Shortening of all distal phalanges of the fingers, Sinusitis, Sh...	OMIM:245150
Kabuki Syndrome 2	Prominent fingertip pads, Pulmonic stenosis, Intrauterine growth retardation, Short 5th finger, H...	OMIM:300867
Distal Triplication 15Q	Retrognathia, Abnormal sternum morphology, Kyphosis, Arachnodactyly, Abnormal heart morphology, I...	ORPHA:314588
Gm1 Gangliosidosis Type 1	Pectus carinatum, Short long bone, Cardiomyopathy, Flared iliac wing, Hypoplastic vertebral bodie...	ORPHA:79255
Down Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Renal hypoplasia/aplasia, Sandal gap...	ORPHA:870
Sotos Syndrome	Decreased fetal movement, Narrow palate, Abnormality of the kidney, Advanced eruption of teeth, M...	OMIM:117550
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Amelia, Tracheoesophageal fis...	ORPHA:2538
Acro-Renal-Mandibular Syndrome	Renal hypoplasia/aplasia, Pectus carinatum, Tracheoesophageal fistula, Kyphosis, Split foot, Intr...	ORPHA:958
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Short finger, Polyhydramnios, Thin ribs, Depressed nasal ridge, Micrognathia, ...	OMIM:253290
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Sacral dimple, Hypospadias, 2-3 toe syndactyly, Truncus arter...	OMIM:617516
Noonan Syndrome 14	Pectus carinatum, Pectus excavatum, Kyphosis, Pulmonic stenosis, Wide mouth, Mitral valve prolaps...	OMIM:619745
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Bifid uvula, Umbilical he...	OMIM:601808
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencephaly, Narrow ...	OMIM:616546
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Aortic root ...	OMIM:620025
Meckel Syndrome, Type 8	Polydactyly, Short nose, Enlarged kidney, Occipital encephalocele, Encephalocele, Narrow chest, P...	OMIM:613885
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger synda...	ORPHA:1908
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Abnormal vertebral morphology, Ectopic kidney, Abnormality of the vertebral column...	OMIM:239800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Breech presentation, Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, S...	OMIM:210710
Congenital Disorder Of Glycosylation, Type Il	Short nose, Hydrops fetalis, Polycystic kidney dysplasia, Cerebellar atrophy, Ascites, Kyphosis, ...	OMIM:608776
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct...	OMIM:607941
Prune Belly Syndrome	Pectus excavatum, Intestinal malrotation, Congenital posterior urethral valve, Oligohydramnios, A...	ORPHA:2970
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Prominent interphalangeal joints, Wide mouth, Lon...	OMIM:614609
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Abnormal sternum morphology, Cerebellar atrophy, Pulmonic stenosis, ...	OMIM:616737
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Aortic regurgitation, Hypoplasia of penis, Anteverted nares, Vesicoureteral reflux, C...	ORPHA:96147
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Hypoplastic pelvis, Short distal phalanx of finger, Ge...	ORPHA:85166
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Cardiomyopathy, Large iliac wing, Kyphosis, Derma...	OMIM:253220
Feingold Syndrome Type 1	Abnormal heart morphology, Abnormality of the kidney, Tricuspid atresia, Multiple muscular ventri...	ORPHA:391641
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Pectus carinatum, Ventricular hypertrophy, Pulmonic stenosis, Synd...	OMIM:620654
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Pectus excavatum, Short philtrum, Anteverted nares, Scoliosis, Short stature, Cleft p...	OMIM:612530
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Short clavicles, Mandibular prognathia, Short stature, Renovascular hyperte...	ORPHA:401923
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Low insertion of columella, Short long bone, Cereb...	ORPHA:79328
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Abnormal heart mo...	ORPHA:354
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal...	OMIM:174200
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Retrognathia, Long nose, Clinodactyly of the 5th toe, Clinodactyly ...	OMIM:620113
Meacham Syndrome	Enlarged kidney, Bicuspid aortic valve, Congenital alveolar dysplasia, Single umbilical artery, T...	OMIM:608978
Weill-Marchesani Syndrome 1	Broad metatarsal, Pulmonic stenosis, Aortic valve stenosis, Broad ribs, Narrow palate, Tooth malp...	OMIM:277600
Frontoocular Syndrome	Narrow philtrum, Narrow mouth, High palate, Pectus excavatum, Pulmonic stenosis, Micrognathia, Pr...	OMIM:605321
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Breech presentation, Renal cortical microcysts, Dysphagia, Hypospadias, Antev...	OMIM:214100
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Narrow palate, Bicuspid aortic valve, Pulmonary insufficiency, Thick lower lip vermilion, Aortic ...	ORPHA:555877
Czeizel-Losonci Syndrome	Tracheoesophageal fistula, Myelomeningocele, Split foot, 1-2 finger syndactyly, Ureteral agenesis...	ORPHA:2437
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Nemaline Myopathy 9	Polyhydramnios, Breech presentation, Narrow chest, Scoliosis, High palate, Micrognathia, Cleft pa...	OMIM:615731
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr...	OMIM:617895
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu...	OMIM:614980
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Aortic regurgitation, Short philtrum, Olig...	OMIM:609460
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat acetabular roof...	OMIM:269250
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Bicuspid aortic valve, Absent cupid's bow, Ventricular hypertrophy, Ventricular septa...	ORPHA:284169
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Abnormal nasopharynx morphology, ...	OMIM:607323
Renal Tubular Dysgenesis	Bilateral single transverse palmar creases, Polyhydramnios, Renotubular dysgenesis, Proximal tubu...	ORPHA:3033
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Abnormal sternum morphology, Pectus excavatum, Abnorm...	ORPHA:96167
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Sacral meningocele, Hip disloc...	OMIM:223200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, ...	OMIM:619227
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Pyloric stenosis, Pulmonic stenosis, Overlapping toe, Atrial septal defect, Ventri...	OMIM:614262
Autosomal Recessive Amelia	Orofacial cleft, Polyhydramnios, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia ...	ORPHA:1027
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis, Abnormal form of the ...	ORPHA:818
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Retrognathia, Dental crowding, Elbow flexion contracture, High palate, Internally rot...	OMIM:617468
Tyshchenko Syndrome	Narrow palate, High, narrow palate, Polyhydramnios, Narrow chest, High palate, Pectus excavatum, ...	OMIM:615102
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Non-midl...	ORPHA:3080
Monosomy 18Q	Kyphoscoliosis, Pulmonary valve defects, Pectus excavatum, Left-to-right shunt, Atlantoaxial abno...	ORPHA:1600
Temtamy Syndrome	Aortic regurgitation, Aortic aneurysm, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Micro...	OMIM:218340
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft upper lip, Cleft palate, Oligohydra...	ORPHA:3316
Zaki Syndrome	Broad distal phalanx of finger, Hypoplasia of the phalanges of the toes, Wide mouth, Median pseud...	OMIM:619648
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ...	OMIM:312870
Atelosteogenesis Type I	Short long bone, Multiple renal cysts, Malrotation of colon, Thoracic hypoplasia, Abnormal fibula...	ORPHA:1190
Orofaciodigital Syndrome Type 6	Renal hypoplasia/aplasia, Mesoaxial polydactyly, Abnormal oral frenulum morphology, Abnormal hear...	ORPHA:2754
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ...	ORPHA:1507
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu...	ORPHA:3092
Noonan Syndrome 4	Atrial septal defect, Ureteral duplication, Cubitus valgus, Polyhydramnios, Pectus excavatum of i...	OMIM:610733
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of...	ORPHA:666
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Aortic root aneurysm, Scoliosis, Ascending tubular aorta aneurysm, High pal...	OMIM:619825
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Low hanging columella, A...	OMIM:244300
Cardiospondylocarpofacial Syndrome	Hypoplastic nasal tip, Wide mouth, Dysplastic tricuspid valve, Long philtrum, Decreased fetal mov...	OMIM:157800
Alg3-Cdg	Abnormality of the nose, Abnormality of the gastrointestinal tract, Neural tube defect, Coarctati...	ORPHA:79321
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Enlarged thorax, Broad thumb, Intrauterine growth retardation, Abnor...	ORPHA:251071
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ...	ORPHA:261120
Serkal Syndrome	Orofacial cleft, Hypospadias, Ventricular septal defect, Hypoplasia of the bladder, Pulmonic sten...	ORPHA:139466
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect, Single transverse palmar crease, Notched primary central inci...	OMIM:620062
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Abnormal heart morphology, Recurrent aspi...	OMIM:612289
Hydrolethalus Syndrome 1	Anencephaly, Intrauterine growth retardation, Hypospadias, Dandy-Walker malformation, Postaxial h...	OMIM:236680
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Short metac...	OMIM:215140
Orofaciodigital Syndrome Type 5	Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, A...	ORPHA:2919
Congenital Sialidosis Type 2	Polydactyly, Abnormality of the kidney, Gingival overgrowth, Ascites, Protruding tongue, Abnormal...	ORPHA:93400
Dyrk1A-Related Intellectual Disability Syndrome	Pectus excavatum, Kyphosis, Aortic valve stenosis, Arachnodactyly, Intrauterine growth retardatio...	ORPHA:464306
Holt-Oram Syndrome	Pectus excavatum, Kyphosis, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal met...	ORPHA:392
Congenital Disorder Of Glycosylation, Type Ik	Thin vermilion border, Cardiomyopathy, Abnormality of the amniotic fluid, Micrognathia, Nonimmune...	OMIM:608540
Degcags Syndrome	Retrognathia, Breech presentation, Pulmonic stenosis, Premature birth, Wide mouth, Syndactyly, Lo...	OMIM:619488
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Dental crowding, Pectus excavatum, Umbilical hernia, Telangiectasia, Dandy-Wa...	OMIM:612582
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Bifid nasal tip, Intestinal malrotation, Flexion contr...	ORPHA:2712
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Anorect...	ORPHA:567
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Noonan Syndrome 2	Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Prominent fingert...	OMIM:605275
Teebi Hypertelorism Syndrome 1	Short nose, Single umbilical artery, Aortic root aneurysm, Dental crowding, Anteverted nares, Sho...	OMIM:145420
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Aortic regurgitation, Spondylolisthesis, Mandibular prognathia, Short lon...	OMIM:252600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Narrow nasal ridge, Ureteral agenesis, Oligohydramnios, Anteverted nares, Cerebellar hypoplasia, ...	OMIM:236500
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Polycystic kidney dysplasia, Single transv...	OMIM:617866
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abnormal cardiac septum...	OMIM:308050
Toriello-Carey Syndrome	Cardiomyopathy, Pulmonic stenosis, Intrauterine growth retardation, Aplasia/Hypoplasia of the cer...	ORPHA:3338
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Rhizomelic Syndrome	Rhizomelia, Pulmonic stenosis, Short stature, Micrognathia, Bifid distal phalanx of the thumb, Co...	OMIM:268250
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Stillbirth, Enlarged kidney, Situs inversus totalis, Talipes equinovarus,...	OMIM:615415
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clinodactyly of the 5th finger, Ectopic kidney, Horseshoe kidney, Aorti...	ORPHA:140952
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Aortic regurgitation, Shoulder dislocation, Scoliosis, Kyphosis, Arachnodact...	ORPHA:2181
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Cerebellar atrophy, Renal cortical microcysts, Heart murmur, Intrauterine growth...	OMIM:614866
Aarskog-Scott Syndrome	Everted lower lip vermilion, Pectus excavatum, Umbilical hernia, Long philtrum, Anteverted nares,...	ORPHA:915
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Abnormal renal morphology, Long philtrum, Overlapping toe, Intrauterine growth reta...	OMIM:613792
Trisomy 17P	Hypoplasia of penis, Aortic valve stenosis, Urethral valve, Wide mouth, Urethral stenosis, Intrau...	ORPHA:261290
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Pectus excavatum, Long philt...	OMIM:618870
Phaver Syndrome	Butterfly vertebrae, Triphalangeal thumb, Hypoplastic aortic arch, Abnormal form of the vertebral...	ORPHA:2876
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Polyhydramnios, Gastroesophageal reflux, Abnormal denta...	ORPHA:3071
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower li...	ORPHA:56304
Maternal Phenylketonuria	Deviated nasal septum, Esophageal atresia, Anteverted nares, Abnormal renal morphology, High pala...	ORPHA:2209
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal lung lobation, At...	ORPHA:1120
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi...	OMIM:229850
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Camp...	OMIM:619123
Achondrogenesis	Short nose, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Anteverted nares, Microm...	ORPHA:932
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s...	OMIM:608328
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Prominent fingertip pads, Mitral valve prolapse, Dysplastic tricuspid valve, Intraute...	OMIM:612863
Raine Syndrome	Pectus excavatum, Microdontia, Wide mouth, Thoracic hypoplasia, Choanal atresia, Micromelia, Shor...	OMIM:259775
Orofaciodigital Syndrome V	Aganglionic megacolon, Horseshoe kidney, Sandal gap, Scoliosis, High palate, Ventricular septal d...	OMIM:174300
Primary Pulmonary Hypoplasia	Pneumothorax, Dextrocardia, Patellar hypoplasia, Ureteral stenosis, Micrognathia, Secundum atrial...	ORPHA:2257
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Congestive heart failure, Hydrops fetalis, Abnormal heart valve morp...	OMIM:230500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Prominent fingertip pads, Pectus excavatum, Microdontia, Broad thumb, Bifid uvula, Bicuspid aorti...	OMIM:612474
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect, Abnormal hand morphology	OMIM:122850
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Hypospadias, Anencephaly, Encephalocele, Non-midline ...	ORPHA:1335
Bohring-Opitz Syndrome	Retrognathia, Dislocated radial head, Broad alveolar ridges, Bilateral cleft palate, Intestinal m...	OMIM:605039
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Pectus excavatum, Kyphosis, Aortic valve stenosis, Flexion contracture of finger, Intrauterine gr...	ORPHA:464311
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the p...	ORPHA:2990
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Hydrops fetalis, Polyhydramnios, Barrel-shaped chest...	OMIM:200610
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Everted lower lip vermilion, Left-to-right shunt, Ascites, Broad...	OMIM:619534
Cerebrofacioarticular Syndrome	Caudal appendage, Anal stenosis, Hypospadias, Bilateral choanal atresia/stenosis, Cerebellar verm...	ORPHA:314679
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Double Outlet Left Ventricle	Orofacial cleft, Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicusp...	ORPHA:3427
Intellectual Developmental Disorder, Autosomal Dominant 43	Short philtrum, Increased overbite, Low hanging columella, Anteverted nares, Gingival overgrowth,...	OMIM:616977
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Pectus excavatum, Intestinal malrotation, Arachnodac...	OMIM:300373
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Thoracic hypop...	OMIM:117650
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Cerebellar atrophy, Short distal phalanx of finger, Long philtrum, Abnormal...	OMIM:614080
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Solitary m...	OMIM:619657
Noonan Syndrome 7	Deep palmar crease, Cubitus valgus, Pectus carinatum, Scoliosis, Abnormal esophagus morphology, H...	OMIM:613706
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Scoliosis, Cleft upper lip, Large hands, Broad nasal tip, Preaxial hand polydactyly	ORPHA:85287
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Orofacial cleft, Retrognathia, Short nose, Bicuspid aortic valve, A...	OMIM:243310
Noonan Syndrome 5	Polyhydramnios, Cubitus valgus, Abnormal sternum morphology, Mandibular prognathia, Hypertrophic ...	OMIM:611553
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Aortic regurgitation, Sandal gap, Clinodactyly of the thumb, Narrow ...	OMIM:620072
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Gingival overgrowth, Patent foramen ovale, Scoliosis, Protruding tongue, Short statur...	OMIM:619179
Congenital Heart Block	Bradycardia, Premature birth, Intrauterine growth retardation, Oligohydramnios, Vaginal birth aft...	ORPHA:60041
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Ab...	ORPHA:96334
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P...	OMIM:620642
Legius Syndrome	High, narrow palate, High palate, Pectus excavatum, Supravalvar pulmonary stenosis, Micrognathia,...	OMIM:611431
Hurler-Scheie Syndrome	Aortic regurgitation, Scoliosis, Pulmonary arterial hypertension, Dermatan sulfate excretion in u...	OMIM:607015
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Abnormal heart morphology, Dysphagia, Long philtrum, Overlapping toe, O...	OMIM:618494
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Long philtrum, Abnormal sacrum morphology, Abnormal fibula morphology, ...	ORPHA:1988
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Sy...	OMIM:617478
Trichohepatoenteric Syndrome 1	Pulmonic stenosis, Renal cortical microcysts, Bifid uvula, Wide mouth, Abnormalities of placenta ...	OMIM:222470
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Retrognathia, Dental crowding, Narrow nasal ridge, Pulmonic stenosis, Short philtrum, Gingival re...	OMIM:618343
Achondrogenesis Type 2	Delayed pubic bone ossification, Narrow chest, Short long bone, Short ribs, Hypoplastic ilia, Mic...	ORPHA:93296
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Pectus excavatum, Depressed nasal ridge, Kyphosis, Intestinal malrotation, Incom...	ORPHA:77300
Stuve-Wiedemann Syndrome 1	Wide nasal base, Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bo...	OMIM:601559
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Absent outer dynein arms, Atrioventricular canal defect, Patent ductus ar...	OMIM:618300
Mucolipidosis Iii Gamma	Genu valgum, Flat capital femoral epiphysis, Aortic regurgitation, Claw hand deformity, Shoulder ...	OMIM:252605
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Pectus carinatum, High palate, Pectus excavatum, Proportion...	OMIM:609654
Cardiac Valvular Dysplasia, X-Linked	Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T...	OMIM:314400
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Unilateral renal agenesis, Hypoplastic aortic arch, Meningocele, Scoliosis...	OMIM:620511
Galloway-Mowat Syndrome 7	Kyphoscoliosis, Pectus excavatum, Arachnodactyly, Edema, Stage 5 chronic kidney disease, Clinodac...	OMIM:618348
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Everted lower lip vermilion, Short distal phalanx of finger, Long philtrum, Short 5th finger, Cys...	OMIM:220500
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ...	OMIM:192350
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Single umbilical artery, Redu...	OMIM:613426
Congenital Heart Defects, Multiple Types, 9	Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu...	OMIM:620294
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Polyhydramnios, Narrow chest, Femoral bowing, Short ...	OMIM:615503
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Intrauterine growth retardation, Narrow nose, Pelvic kidney, Patent forame...	OMIM:300707
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Short metacarpal, Pectus excavatum, Pulmonic stenosis, B...	OMIM:617137
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Widely spaced teeth, Scoliosis, High palate, Pulmonic s...	OMIM:618205
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thumb, Brachydactyly, Ventricular ...	ORPHA:3449
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Repeated pneumothoraces, Pectus carinatum, Pectus excavatum, Microdontia, Arachno...	ORPHA:536467
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Triphalangeal thumb, Renal...	ORPHA:2549
Lethal Congenital Contracture Syndrome 11	Retrognathia, Polyhydramnios, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinov...	OMIM:617194
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Spondylolisthesis, Arterial tortuosity, Pectus carinatum, Pectus excavatum, Arteria...	ORPHA:284984
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Talipes equinovarus, Anteverted nares, Hyperlordosis, Everted lower...	OMIM:619980
Cornelia De Lange Syndrome 1	Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Abnormal renal morphology, M...	OMIM:122470
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal finger morphology, Glossoptosis, Wrist flexion contracture, Arachnodactyly, Overlapping ...	ORPHA:436003
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Premature birth, Long philtrum, Intrauterine g...	OMIM:300998
Cranioectodermal Dysplasia 2	Retrognathia, Hypertension, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatu...	OMIM:613610
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Breech presentation, Anencephaly, Intestinal...	OMIM:249000
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Premature birth, Wid...	OMIM:154400
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupted ...	OMIM:206920
Faciocardiomelic Syndrome	Polydactyly, Hyperplasia of the maxilla, Narrow chest, Slender long bone, Anteverted nares, Cuboi...	OMIM:612731
Hunter-Macdonald Syndrome	Pectus carinatum, Hypertension, Mitral valve prolapse, Umbilical hernia, Bicuspid aortic valve, H...	OMIM:611962
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pectus excavatum, Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Mitral va...	OMIM:601776
Vacterl/Vater Association	Occipital encephalocele, Ectopic kidney, Anorectal anomaly, Hypoplasia of penis, Anencephaly, Tra...	ORPHA:887
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo...	ORPHA:3104
Velocardiofacial Syndrome	Retrognathia, Abnormality of the hand, Right aortic arch with mirror image branching, Interrupted...	OMIM:192430
Campomelia, Cumming Type	Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Bowing of the long bones, Abnormally ...	ORPHA:1318
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Microcolon, Intestinal malrotation, Pulmonic stenosis, Umbilical hernia, In...	OMIM:600001
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Long thorax, Tooth agenesis, Abnormal m...	ORPHA:1277
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Bifid uvula, Long philtrum, Triangular mou...	OMIM:617506
Meckel Syndrome 14	Pneumothorax, Retrognathia, Occipital encephalocele, Polycystic kidney dysplasia, Anteverted nare...	OMIM:619879
Catel-Manzke Syndrome	Low insertion of columella, Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, U...	OMIM:616145
Genitopatellar Syndrome	Wide nose, Delayed eruption of teeth, Gastroesophageal reflux, Hypoplastic ilia, Prominent nose, ...	ORPHA:85201
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Hydrops fet...	ORPHA:1263
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Short long bone, Glossoptosis, Cerebellar atrophy, Broad femoral neck, Left ventr...	OMIM:611209
Noonan Syndrome 10	Cubitus valgus, Patent ductus arteriosus, Palmoplantar cutis laxa, Pectus carinatum, Scoliosis, H...	OMIM:616564
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, 2-4 toe cutaneous syndactyly, Pectus excavatum, Kyphosis, Aortic valve stenosis, Ab...	ORPHA:268261
Orofaciodigital Syndrome Ii	Bifid nasal tip, Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum,...	OMIM:252100
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Scoliosis, Prominent nose, Short sta...	OMIM:301022
Smith-Lemli-Opitz Syndrome	Breech presentation, Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Hyperte...	OMIM:270400
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Wide nose, Recurrent respiratory infections, High palate, Abnormality of the dentition, Pulmonic ...	OMIM:618282
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pectus excavatum, Recurrent sinusitis, Decreased fetal movement, Overlapping toe, Sacral dimple, ...	OMIM:213980
Orofaciodigital Syndrome I	Radial deviation of finger, Hypertension, Myelomeningocele, Abnormal heart morphology, Ovarian cy...	OMIM:311200
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Anteverted nares, Postaxial hand polydactyly, Everte...	ORPHA:75389
Noonan Syndrome 8	Polyhydramnios, Patent ductus arteriosus, Palmoplantar cutis laxa, Abnormal sternum morphology, P...	OMIM:615355
Ring Chromosome 22 Syndrome	Wide nasal base, Azoospermia, 2-3 toe syndactyly, Lymphedema, Pleural effusion, Protruding tongue...	ORPHA:1446
Pagod Syndrome	Abnormal clavicle morphology, Situs inversus totalis, Renal hypoplasia/aplasia, Encephalocele, Me...	ORPHA:991
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Broad nasal tip, Patent ductus arteri...	OMIM:601927
Marfan Syndrome	Retrognathia, Limited elbow movement, Spondylolisthesis, Dental crowding, Pectus carinatum, Aorti...	ORPHA:558
Intellectual Developmental Disorder, Autosomal Recessive 73	Decreased fetal movement, Widely spaced teeth, Clinodactyly of the 5th finger, Single transverse ...	OMIM:619717
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Duplicated collecting system, Long nasal bridge, Micrognathia...	OMIM:620071
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Submucous cleft hard palate, Bifid uvula, Absent thumb, Atrial septal defect	OMIM:619239
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Kyphosis, Arachnodactyly, Decreas...	ORPHA:280
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad alveolar ridges, Broad clavicles, Short long bone, Pectus excavatum, Kyphos...	OMIM:249420
Marfan Syndrome	Kyphoscoliosis, Retrognathia, Spondylolisthesis, Dental crowding, Pectus carinatum, Pectus excava...	OMIM:154700
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li...	ORPHA:401942
Suleiman-El-Hattab Syndrome	Polydactyly, Thick lower lip vermilion, Recurrent respiratory infections, Single transverse palma...	OMIM:618950
Charge Syndrome	Delayed puberty, Anosmia, Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Abnormal pa...	OMIM:214800
Loeys-Dietz Syndrome 3	Retrognathia, Spondylolisthesis, Arterial tortuosity, Abnormal sternum morphology, Pectus carinat...	OMIM:613795
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Sandal gap, Joint contracture of the 5th finger, Mandibular prognathia, Patent fora...	OMIM:618914
Thanatophoric Dysplasia, Type I	Breech presentation, Disproportionate short-limb short stature, Short greater sciatic notch, Wide...	OMIM:187600
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Aplasia/Hypoplasia o...	OMIM:612651
Diabetic Embryopathy	Single umbilical artery, Ureteral duplication, Transposition of the great arteries, Renal hypopla...	ORPHA:1926
Loeffler Endocarditis	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa...	ORPHA:75566
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Premature birth, Absent thumb, Hypoplastic sacral ...	OMIM:105650
Noonan Syndrome 12	Polyhydramnios, Proximal placement of thumb, 11 pairs of ribs, Pectus excavatum, Spinal canal ste...	OMIM:618624
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Abnormal heart morphology, Protruding tongue	DECIPHER:52
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Wide nose, Sandal gap, Aortic aneurysm, Abnormal renal morphology, Patent ...	ORPHA:477817
Cardiofaciocutaneous Syndrome 3	Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Wide ...	OMIM:615279
Developmental And Epileptic Encephalopathy 80	Triphalangeal thumb, High palate, Tapered finger, Protruding tongue, Growth delay, Short distal p...	OMIM:618580
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Cardiofaciocutaneous Syndrome 1	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Premature birth, Deep palmar crease, Antev...	OMIM:115150
Mucolipidosis Type Ii	Cardiomyopathy, Kyphosis, Abnormal mitral valve morphology, Umbilical hernia, Left ventricular hy...	ORPHA:576
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Short philtrum, Single transverse palmar crease, High palate,...	OMIM:618354
Ogden Syndrome	Left atrial enlargement, Everted upper lip vermilion, Enlarged kidney, Sandal gap, Bifid nasal ti...	OMIM:300855
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Anorectal anomaly, Abnormal form of the vertebral bodies, Abnormal inte...	ORPHA:1834
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Hematuria, Abnormal tricu...	ORPHA:90308
Esophageal Atresia	Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Clin...	ORPHA:1199
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys...	ORPHA:229
Alagille Syndrome	Delayed puberty, Long nose, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Hype...	ORPHA:52
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Disproportionate short-limb short stature, Pulmon...	ORPHA:709
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ...	OMIM:132900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Dental crowding, Intestinal malrotation, Pulmonic stenosis, Aorti...	ORPHA:353281
Hypophosphatemic Rickets, Autosomal Recessive, 2	Genu valgum, Medullary nephrocalcinosis, Pulmonic stenosis, Hypoplasia of teeth, Carious teeth, H...	OMIM:613312
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pectus carinatum, Pulmonic stenosis, Broad thumb, Clinodactyly, Varicose veins,...	OMIM:612541
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cerebellar cyst, Ectopic kidney, Unilateral renal agenesis, Azoospermia, Abnormality of the verte...	OMIM:601076
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Premature birth,...	OMIM:618164
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Tooth agenesis, Umbilical hernia, C...	ORPHA:2710
Craniosynostosis, Herrmann-Opitz Type	Short nose, Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Short stature, Ab...	ORPHA:2145
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Anteverted nares, Pulmonary hypoplasia, ...	OMIM:613124
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Palmoplantar cutis gyrata, Abnormality of primary teeth, Narrow mouth, Gingivitis...	ORPHA:75496
Agnathia-Otocephaly Complex	Situs inversus totalis, Polyhydramnios, Wide nose, Narrow mouth, Mandibular aplasia, Micrognathia...	OMIM:202650
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Aspiration pneumonia, Micrognat...	ORPHA:141152
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scolios...	OMIM:619110
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Glossoptosis, Epiphyseal stippling	OMIM:614876
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Premature birth, Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus art...	ORPHA:1208
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thick lower lip vermilion, Abnormal sternum morphology, Pectus carinatum, Pulmonic stenosis, Broa...	ORPHA:137634
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Cerebellar vermis hypoplasia, Dan...	OMIM:615948
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Spinal rigidity, Breech presentation, Dental crowding, Ascites, Pectus excavatum, N...	OMIM:620369
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia,...	OMIM:274000
Tbck-Related Intellectual Disability Syndrome	Broad finger, High, narrow palate, 11 pairs of ribs, Broad toe, Neurogenic bladder, Mandibular pr...	ORPHA:488632
Eng-Strom Syndrome	Scoliosis, Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine ...	ORPHA:1937
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal heart morphology, Mitral valve prolapse, Limited mobility of proximal interphalangeal jo...	ORPHA:85438
Caudal Regression Syndrome	Orofacial cleft, Aplasia/Hypoplasia of the sacrum, Ureteral duplication, Ectopic kidney, Abnormal...	ORPHA:3027
Tetrasomy 15Q26	Kyphoscoliosis, Hypoplastic aortic arch, Dandy-Walker malformation, High palate, Camptodactyly, A...	OMIM:614846
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Hydrops fetalis, Ectopic kidney, Tracheoesophageal fistula, Foot ...	ORPHA:268249
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Cerebellar atrophy, Shor...	OMIM:620269
Mucolipidosis Type Iii Alpha/Beta	Kyphoscoliosis, Congestive heart failure, Postnatal growth retardation, Aortic regurgitation, Ker...	ORPHA:423461
Orofaciodigital Syndrome Viii	Polydactyly, Bifid nasal tip, High palate, Short stature, Cleft palate, Broad nasal tip, Syndacty...	OMIM:300484
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Juxtaductal coarc...	ORPHA:3310
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Abnormal sternum morphology, Pul...	ORPHA:2847
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Decreased fetal movement, Retrognathia, Clinodactyly of the 5th finger, Bifid nasal tip, Hyperten...	OMIM:619758
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Single transverse palmar crease, Mandibular prognathia, Prominent fingertip pads, High palate, Ev...	OMIM:617804
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Intestinal pseudo-obstruction, Brad...	OMIM:616201
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Decreased fetal movement, Intrauteri...	OMIM:256520
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Right aortic arch, Coarctation of aorta, Bifid sternum	OMIM:140850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Abnormal renal morphology, Mandibular prognath...	OMIM:239300
Joubert Syndrome 14	Short philtrum, Encephalocele, Meningocele, Dandy-Walker malformation, Cerebellar vermis hypoplas...	OMIM:614424
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tort...	OMIM:619472
Scheie Syndrome	Genu valgum, Aortic regurgitation, Wide nose, Spondylolisthesis, Mandibular prognathia, Aortic va...	OMIM:607016
Roifman Syndrome	Biconvex vertebral bodies, Short metacarpal, Premature birth, Irregular femoral epiphysis, Intrau...	OMIM:616651
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Split foot, Intrauterine growth retardation, Oligohydramnios, Hip dislocation, Na...	OMIM:200980
X-Linked Mandibulofacial Dysostosis	Branchial anomaly, High palate, Pectus excavatum, Pulmonic stenosis, Abnormal mitral valve morpho...	ORPHA:1131
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp...	ORPHA:2635
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Decreased fetal movement, Congestive heart failure, Patent foramen ovale, Narrow mouth, Cardiomyo...	OMIM:616866
Feingold Syndrome 2	Postnatal growth retardation, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Short m...	OMIM:614326
Cardiofaciocutaneous Syndrome	Pectus excavatum, Pulmonic stenosis, Premature birth, Long philtrum, Deep palmar crease, Antevert...	ORPHA:1340
Feingold Syndrome Type 2	Ventricular septal defect, Short stature, Short middle phalanx of finger, Short thumb, Brachydact...	ORPHA:391646
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal...	OMIM:619003
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Vesicoureteral reflux, Short stature, Micrognathia, C...	OMIM:618265
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Scoliosis, Anterior encephalocele, Amelia, Cleft upper lip...	OMIM:601357
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Williams Syndrome	Abnormal carotid artery morphology, Everted lower lip vermilion, Wide mouth, Sacral dimple, Incre...	ORPHA:904
Triploidy	Polyhydramnios, Hypospadias, Narrow chest, Hypoplasia of penis, Finger syndactyly, Non-midline cl...	ORPHA:3376
Even-Plus Syndrome	Short nose, Recurrent urinary tract infections, Patent foramen ovale, Vesicoureteral reflux, High...	OMIM:616854
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Kyphosis, Abnormal oral frenulum morphology, Intestinal malrotati...	ORPHA:404440
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Clubbing, Abnormal inferior vena cava morphology, Intestinal malrota...	ORPHA:244
Kleefstra Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Bicuspid aortic valve, Advanced eruption of tee...	ORPHA:261494
Marshall-Smith Syndrome	Retrognathia, Short nose, Slender long bone, Anteverted nares, Gingival overgrowth, Scoliosis, Ch...	ORPHA:561
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Ectopic kidney, Kyphosis, Abnormal heart morphology, Bicuspid aortic valve, Dilat...	OMIM:301111
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Prolonged QT interval, Hypoplasia of penis, Cardiomyopathy, Pectus excavatu...	ORPHA:373
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Pectus carinatum, Narrow mouth, Hypoplasia of the maxilla, Broad ...	ORPHA:261295
Smith-Magenis Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Decreased fetal...	ORPHA:819
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni...	OMIM:265000
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Short metacarpal, Pectus e...	OMIM:150250
Cornelia De Lange Syndrome 6	Short nose, Atrioventricular canal defect, Clinodactyly of the 5th finger, Gastroesophageal reflu...	OMIM:620568
Microcephaly-Micromelia Syndrome	Wide nose, Narrow chest, Oligodactyly, Narrow mouth, Forearm undergrowth, Micromelia, Humeroradia...	OMIM:251230
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Noonan Syndrome With Multiple Lentigines	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Abnormal mitral valve morphology, Mitral v...	ORPHA:500
Zechi-Ceide Syndrome	Short metatarsal, Wide nose, Sandal gap, Cerebellar vermis hypoplasia, Oligodontia, Cleft upper l...	OMIM:612916
Alagille Syndrome 2	Long nose, Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal ...	OMIM:610205
Congenital Myopathy 17	Pectus excavatum, Long philtrum, Overlapping toe, Clinodactyly, Hand clenching, Cleft palate, Nar...	OMIM:618975
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Branchial Arch Syndrome, X-Linked	Pulmonic stenosis, High, narrow palate, High palate, Short stature	OMIM:301950
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft upper lip, Sprengel a...	OMIM:214300
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Polyhydramnios, Clinodactyly of the 5th finger, Gastroesophageal reflux, B...	OMIM:618829
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Breech presentation, Sandal gap, Ascites, Umbilical hernia, Long philtrum, Multiple...	OMIM:613177
Tetrasomy 5P	Postnatal growth retardation, Short nose, Congestive heart failure, Clinodactyly of the 5th finge...	ORPHA:3309
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Wide nose, Interrupted aortic arch, Scoliosis, Depressed nas...	ORPHA:1727
Okur-Chung Neurodevelopmental Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Anteverted nares, Single transverse palmar crease...	OMIM:617062
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Pectus excavatum, Calcaneovalgus deformity, Mitral valve prolapse, Mitral r...	OMIM:225320
Carpenter Syndrome 2	Retrognathia, Pectus carinatum, Pectus excavatum, Broad thumb, Umbilical hernia, Long philtrum, N...	OMIM:614976
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Clinodactyly of the 5th finger, Wide nose, Sandal gap, Aortic root aneurys...	OMIM:616652
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Contracture of the proxima...	ORPHA:464738
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
X-Linked Intellectual Disability, Nascimento Type	Wide mouth, Overlapping toe, Oligohydramnios, Hypospadias, Patent foramen ovale, Pulmonary arteri...	ORPHA:163956
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti...	OMIM:180849
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Recurrent urinary tract infections, Limited elbow extension and s...	OMIM:244600
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Stillbirth, Absent or minimally ossified vertebral bodies, Pol...	OMIM:600972
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Short philtrum, Clinodactyly, Proteinuria, Pulmonary hemorrhage, Aminoaciduria	OMIM:603585
Genitopalatocardiac Syndrome	Hypospadias, Non-midline cleft of the upper lip, Scoliosis, Postaxial hand polydactyly, Kyphosis,...	ORPHA:2075
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Abnormal vertebral morphology, Dextrocardia, Gastroesophageal r...	ORPHA:261197
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Microphthalmia, Syndromic 2	Sandal gap, Bifid nasal tip, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve ...	OMIM:300166
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, Scoliosis, High palate, Abnormality of the dentition, Pectus exc...	ORPHA:776
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Low han...	OMIM:272440
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Retrognathia, Dental crowding, Narrow nasal ridge, Ventricular hyp...	ORPHA:740
Nphp3-Related Meckel-Like Syndrome	Polyhydramnios, Dandy-Walker malformation, Intestinal malrotation, Oligohydramnios, Pulmonary hyp...	ORPHA:3032
Juvenile Sialidosis Type 2	Abnormality of the kidney, Abnormal form of the vertebral bodies, Gingival overgrowth, Protruding...	ORPHA:93399
Ogden Syndrome	Postnatal growth retardation, High, narrow palate, Everted upper lip vermilion, Scoliosis, Pulmon...	ORPHA:276432
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Sacral dimple, Short philtrum, Low hanging columella, Long toe, Pat...	OMIM:615668
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop...	OMIM:615382
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cervical C2/C3 vertebral fusion, Abnormal...	ORPHA:2345
Ellis Van Creveld Syndrome	Renal hypoplasia/aplasia, Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of...	ORPHA:289
Trisomy 4P	Abnormal palate morphology, Radial club hand, Hypospadias, Scoliosis, Abnormality of the dentitio...	ORPHA:1738
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Short nose, Transposition of the great arteries, Hypo...	ORPHA:1913
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br...	OMIM:305450
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Platyspondyly, Gingival overgrowth, Scoliosis, Narrow mouth, Protrud...	OMIM:230600
Bardet-Biedl Syndrome 19	Hyposmia, Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Ren...	OMIM:615996
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Abnormal heart morpholo...	OMIM:608739
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal renal morphology, Cerebellar atrophy, Pectus excavatum, Broad thumb, Wide mouth, Umbilic...	ORPHA:329224
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Sandal gap, Repeated pneumothoraces, Dental crowding, Pectus excavatum, Kyphosis, Inte...	OMIM:617602
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Short stature, Intrauterine grow...	ORPHA:2515
Neuraminidase Deficiency	Hydrops fetalis, Epiphyseal stippling, Bone-marrow foam cells, Cardiomyopathy, Ascites, Short sta...	OMIM:256550
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Tooth agenesis, Thoracic hypoplasia, Coxa valga, ...	OMIM:618363
Hennekam Syndrome	Retrognathia, Arteriovenous malformation, Ectopic kidney, Ascites, Tooth agenesis, Hydrops fetali...	ORPHA:2136
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hydrops fetalis, Gastroesophageal reflux, Chylopericardium, Pleural eff...	ORPHA:2414
20Q13.33 Microdeletion Syndrome	Thin vermilion border, Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Talipes equi...	ORPHA:261311
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Arboleda-Tham Syndrome	Sandal gap, Bifid nasal tip, Pectus excavatum, Intestinal malrotation, Pulmonic stenosis, Upper l...	OMIM:616268
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to...	OMIM:613759
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Hypospadias, Postaxial hand...	OMIM:175700
Orofaciodigital Syndrome Type 4	Retrognathia, Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Severe sh...	ORPHA:2753
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hydrops fetalis, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Short stature, Limb undergrowth...	ORPHA:2204
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Fetal Akinesia Deformation Sequence	Polyhydramnios, Dandy-Walker malformation, Scoliosis, Intestinal hypoplasia, Camptodactyly of fin...	ORPHA:994
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, IgA depositio...	OMIM:616730
Tetralogy Of Fallot	Thin vermilion border, Clinodactyly of the 5th finger, Abnormal nasal morphology, Tetralogy of Fa...	ORPHA:3303
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Anal atresia, Short stature, H...	OMIM:613390
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Short Stature-Wormian Bones-Dextrocardia Syndrome	Renal hypoplasia/aplasia, Dextrocardia, Delayed eruption of teeth, Broad alveolar ridges, Abnorma...	ORPHA:2863
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Broad philtrum, Short ...	OMIM:305400
Distal Deletion 10P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:1580
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Mandibular ...	ORPHA:94066
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Dy...	OMIM:620067
Alpha-Mannosidosis, Infantile Form	Pectus carinatum, Cerebellar atrophy, Pectus excavatum, Umbilical hernia, Thickened ribs, Abnorma...	ORPHA:309282
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Sacral dimple, Short philtrum, Scoliosis, Micrognathia, Atrial septal ...	OMIM:608227
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infec...	OMIM:619103
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Hyperlordosis, Internally rotated shoulders, Wide mouth, Dysphagia, Decreased fe...	OMIM:619503
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Abnormality of the temporomandibular joint, Atelectasis, Gastroesophagea...	ORPHA:258
Mgat2-Cdg	Hydrops fetalis, Patent ductus arteriosus, Gastroesophageal reflux, Low hanging columella, Reflex...	ORPHA:79329
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Umbilical hernia, Clino...	OMIM:280000
Pulmonic Stenosis And Deafness	Pulmonic stenosis, Ventricular hypertrophy	OMIM:178651
Noonan Syndrome 1	Kyphoscoliosis, Radial deviation of finger, Superior pectus carinatum, Abnormal sternum morpholog...	OMIM:163950
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Hypospadias, Short philtrum, Gastroesophageal reflux, Anteverted nares, Single tran...	OMIM:616449
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Abnormal sternum morphology, S...	OMIM:109400
Syndromic Diarrhea	Bicuspid aortic valve, Gastritis, Aortic regurgitation, Polycystic kidney dysplasia, Colitis, Int...	ORPHA:84064
9Q21.13 Microdeletion Syndrome	Polydactyly, Postnatal growth retardation, Abnormal tongue morphology, Scoliosis, Vertebral segme...	ORPHA:531151
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Everted lower lip vermilion, Pectus excavatum, Cerebral edema, Cardi...	OMIM:620371
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide mouth, Umbilical hernia, Narrow nose, 2-3 toe cutaneous syndactyly, Short philtrum, Cerebell...	OMIM:618454
Pulmonary Atresia With Intact Ventricular Septum	Hypoplastic right heart, Pulmonary artery atresia	OMIM:265150
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Pectus carinatum, Aortic valve st...	ORPHA:363705
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef...	ORPHA:99050
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Intestinal ma...	ORPHA:2001
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Cerebellar atrophy, Ureteral stenosis, Intestinal malrotation, Absence of t...	OMIM:270100
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Talipes equinovarus, Trismus, Shoulder flexion contracture, Whistling appearance,...	OMIM:277720
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Atelis Syndrome 2	Thick lower lip vermilion, Vitreous hemorrhage, Sacral dimple, Gastroesophageal reflux, Single tr...	OMIM:620185
Costello Syndrome	Limited elbow movement, Pectus carinatum, Pulmonic stenosis, Premature birth, Mitral valve prolap...	OMIM:218040
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth, Postaxial hand polydactyly, Abnormal nasal morphology, Abnormal localization of kid...	ORPHA:83473
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Spondylolisthesis, Descending thoracic aorta aneurysm, A...	OMIM:610168
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Nephronophthisis, Narrow chest, Sho...	ORPHA:474
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Narrow nos...	OMIM:164200
Transaldolase Deficiency	Abnormality of the kidney, Hydrops fetalis, Coarctation of aorta, Edema, Atrial septal defect, Bi...	ORPHA:101028
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Wide mouth, Cervical ribs, Maxillozygomatic hypoplasia, ...	OMIM:164210
Absence Of The Pulmonary Artery	Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac...	ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Anteverted nares, Scoliosis, Cleft upper lip, Bifid uvula, Cleft pala...	OMIM:300958
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Polyhydramnios, Oligohydramnios, Aortic regurgitation	OMIM:615476
Marden-Walker Syndrome	Retrognathia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Pectus carinatum, ...	ORPHA:2461
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Ab...	ORPHA:3405
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia...	ORPHA:40366
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Polyhydramnios, Renal hypoplasia/aplasia, Hypospadias, Sandal gap, Hypopla...	ORPHA:1046
Chromosome 9P Deletion Syndrome	Retrognathia, Clinodactyly of the 5th toe, Sandal gap, Heart murmur, Long philtrum, Long toe, Nar...	OMIM:158170
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Pear-shaped nose, Intrauterine growth retardation, Short stature, Interphalangeal joint contractu...	OMIM:606242
Williams-Beuren Syndrome	Kyphoscoliosis, Abnormal renal morphology, Hypertension, Pectus excavatum, Microdontia, Pulmonic ...	OMIM:194050
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Ureteral duplication, Narrow nasal ridge, Temporomandibular j...	OMIM:275210
Trisomy 8P	Retrognathia, Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Bifid uvula, Nephrocal...	ORPHA:264450
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Renal hypoplasia/aplasia, Short ribs, Tooth agenesis, H...	ORPHA:2092
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Iliac crest ...	OMIM:613320
Sonoda Syndrome	High axial triradius, Narrow mouth, Short stature, Ventricular septal defect, Depressed nasal bridge	OMIM:270460
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Cerebellar atrophy, Wide mouth, Dysphagia, Recurrent aspiration pneum...	ORPHA:280633
Fetal Parvovirus Syndrome	Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Intrauterin...	ORPHA:295
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Pectus excavatum, Ureteral stenosis, Nephrocalcinosis, Long philtrum, Hypopla...	OMIM:615398
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Pectus excavatum, Kyphosis, Tooth agen...	ORPHA:193
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Single umbilical artery, Disproportionate short-limb short stature, Shor...	OMIM:224410
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Slender long...	ORPHA:1486
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Genu valgum, Clinodactyly of the 5th finger, Gastroesophageal reflux, Low ...	OMIM:619721
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Cerebellar atrophy, Partial atriove...	OMIM:620066
Mucolipidosis Type Iii	Abnormal aortic valve morphology, Abnormal hip bone morphology, Craniofacial hyperostosis, Abnorm...	ORPHA:577
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Di...	OMIM:261540
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Non-midline cleft of the up...	ORPHA:1770
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sacral dimple, Hypospadias, Sandal gap, Dental crowding, Antevert...	OMIM:615761
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormality...	OMIM:216100
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr...	OMIM:616501
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor...	ORPHA:2299
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, Absent radius, Adducted thumb, Axi...	ORPHA:3320
Congenital Tracheomalacia	Tracheoesophageal fistula, Abnormal heart morphology, Premature birth, Cardiomegaly, Pulmonary ar...	ORPHA:95430
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short long bone, Short ribs, Accessory oral frenulum, Cone-shaped epiphysis, Aplasia of the epigl...	OMIM:617088
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Abnormal metacarpal morphology, Encephal...	ORPHA:974
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, C...	OMIM:216340
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Hypertension, Renal dysplasia, Abnormal renal corticomedullary diff...	OMIM:616733
Schinzel-Giedion Syndrome	Kyphoscoliosis, Retrognathia, Broad alveolar ridges, Tibial bowing, Abnormal heart morphology, Wi...	ORPHA:798
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Hypoplasia of penis, Short ribs, Urethrovaginal fistul...	ORPHA:93271
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Hypertension, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphys...	ORPHA:2750
Hyperlysinemia	Argininuria, Gastroesophageal reflux, Decreased urine alpha-ketoglutarate concentration, High pal...	ORPHA:2203
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Postaxial polydactyly, Vascular ring, Thoracic scoliosis, Atrial septal defect, Ventric...	OMIM:603387
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy, Dicarboxylic aciduria, Dehydration	ORPHA:79159
Myhre Syndrome	Gingival cleft, Hypertension, Large iliac wing, Bifid uvula, Unilateral cleft lip, Severe short s...	ORPHA:2588
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ...	ORPHA:2511
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Protruding tongue, Short stature, Bronchiectasis, Micrognathia, Sin...	OMIM:242860
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Hypospadias, Fetal akinesia sequence, Bradycardia, Hypertrophic cardiomyopathy, ...	OMIM:618815
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morpholog...	ORPHA:2473
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Broad femoral...	OMIM:212720
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup...	OMIM:618506
D-2-Hydroxyglutaric Aciduria 1	Glutaric aciduria, Aortic regurgitation, Cardiomyopathy, Micrognathia, D-2-hydroxyglutaric aciduria	OMIM:600721
Holoprosencephaly	Solitary median maxillary central incisor, Hypoplasia of penis, Abnormal form of the vertebral bo...	ORPHA:2162
Congenital Gerbode Defect	Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis...	ORPHA:99095
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Hyperlordosis, Kyphosis, Aortic valve stenosis, Wide mouth, Constricted ilia...	OMIM:253010
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Limited elbow movement, Proximal placement of thumb, Gastroesophage...	OMIM:300590
Contractural Arachnodactyly, Congenital	Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Congenital finger flexion contractur...	OMIM:121050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Breech presentation, Microdontia, Thoracic hypoplasia, Abnormal pons morphology, Hydrops fetalis,...	OMIM:300868
Zechi-Ceide Syndrome	Thin vermilion border, Atrial septal defect, Short metatarsal, Short philtrum, Wide nose, Sandal ...	ORPHA:217017
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger...	OMIM:602782
Coffin-Siris Syndrome 5	Thick lower lip vermilion, Short philtrum, Wide nose, Sandal gap, Dandy-Walker malformation, Thic...	OMIM:616938
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Dental crowding, Pectus excavatum, Kyphosis, Dysphagia, Long philtrum, ...	OMIM:617061
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Dextrocardia, Coronary artery fistula, Dilatation of renal calices, Pectus...	OMIM:614294
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Abnormality of the dentition, Pectus excavatum, Carious teeth, Promin...	ORPHA:3270
Coffin-Siris Syndrome 6	Kyphoscoliosis, Retrognathia, High, narrow palate, Short philtrum, Gastroesophageal reflux, Pectu...	OMIM:617808
Bardet-Biedl Syndrome 16	Polydactyly, Recurrent respiratory infections, Bronchiolitis, Renal cyst, Short stature, Renal ag...	OMIM:615993
Noonan Syndrome 3	Short nose, Tricuspid valve prolapse, Polyhydramnios, Patent ductus arteriosus, Chiari type I mal...	OMIM:609942
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Abnormal heart morphology, Bicuspid aortic valve, Intrauterine growth retardation, O...	ORPHA:453499
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:3035
Noonan Syndrome 6	Single umbilical artery, Polyhydramnios, Abnormal sternum morphology, Pectus excavatum, Hypertrop...	OMIM:613224
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Esophageal varix, Card...	OMIM:232500
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Short metacarpal, Abnormally ossified vertebrae, Bifid u...	ORPHA:1427
Restrictive Dermopathy	Ureteral duplication, Temporomandibular joint ankylosis, Thoracic kyphoscoliosis, Microcolon, Apl...	ORPHA:1662
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Postaxial hand polydactyly, B...	OMIM:611134
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Decreased fetal movement, Polyhydramnios, Patent foramen ovale, Premature birth, Pulmonary hypopl...	OMIM:616867
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Dysphagia, Intrauterine growth retardation, Clinodactyly, Sacral dimple, Tr...	OMIM:618460
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:88630
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Widely spaced teeth, Atrioventricular canal defect, Anteverted nare...	OMIM:617364
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Long philtrum, Hip dislocation, Sacral dimple, Dandy-Walker malformation, Scoliosis,...	OMIM:300968
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Everted lower lip vermilion, Short metac...	ORPHA:192
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Kyphoscoliosis, Palpebral edema, Wide nasal base, Dental crowding, Pectus carinatum, Broad philtr...	ORPHA:397709
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Chiari type I malformation, Abnormal vena cava morphology, Short metacarpal, Renal cyst, Intraute...	ORPHA:166035
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Everted lower lip vermilion, Ascites, Premature birth,...	OMIM:608013
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Deep palmar crease, Aortic regurgitation, Cubitus valgus, Duplicated collecting s...	OMIM:607721
Developmental And Epileptic Encephalopathy 100	Decreased fetal movement, Gastroesophageal reflux, Single transverse palmar crease, Gingival over...	OMIM:619777
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Thorac...	OMIM:208150
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Mandibular prognathia, O...	ORPHA:1248
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Pectus excavatum, Nephrocalcinosis, Abnormal heart morphology, Long philtrum,...	ORPHA:369837
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v...	OMIM:620203
Endocardial Fibroelastosis	Abnormal palate morphology, Congestive heart failure, Sandal gap, Hypoplasia of penis, Restrictiv...	ORPHA:2022
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Abnormality of the dentition, Pulmonic stenosis, Enamel hypoplasia,...	OMIM:615802
Craniofacioskeletal Syndrome	Hypoplastic frontal sinuses, Intrauterine growth retardation, Hypospadias, Short philtrum, Choana...	OMIM:300712
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Broad nasal tip, Smoo...	OMIM:620393
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Dental crowding, Short long bone, Intrauterine growth retardation, Hypospadias, Oral-p...	OMIM:619184
Trisomy 18	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Anencephaly, Abnormalit...	ORPHA:3380
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Vesicoureteral reflux, Anal atresia, Growth del...	OMIM:614749
C Syndrome	Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide mouth, Accessory oral ...	OMIM:211750
Developmental Delay, Language Impairment, And Ocular Abnormalities	Scoliosis, Myelomeningocele, Pulmonic stenosis, Short stature, Facial telangiectasia, Hydronephro...	OMIM:620141
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Abnormality of the upper limb, Abnormal heart morphology, Abs...	ORPHA:124
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Short long bone, Hemi...	OMIM:113000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Bilateral lung agenesis, Hypoplasia of the bladder, Pulmonary artery stenosis, Conge...	OMIM:611812
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, Polyhydramnios, 11 pairs of ribs, High palate, Camptodactyly, K...	OMIM:618393
Joubert Syndrome 1	Dysgenesis of the cerebellar vermis, Elongated superior cerebellar peduncle, Cerebellar vermis hy...	OMIM:213300
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Kyphosis, Decreased fetal movement, Malrotation of small b...	OMIM:194190
Wrinkly Skin Syndrome	Pectus excavatum, Microdontia, Kyphosis, Umbilical hernia, Intrauterine growth retardation, Long ...	OMIM:278250
Charlie M Syndrome	Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge...	ORPHA:1406
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Decreased fetal movement, Intrauterine growth ret...	OMIM:616570
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Abnormality of the kidney, Polyhydramnios, Encephalocele, Narrow ...	ORPHA:93274
Autosomal Dominant Cutis Laxa	Intrauterine growth retardation, Adducted thumb, Hip dislocation, Aortic regurgitation, Scoliosis...	ORPHA:90348
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower...	ORPHA:371428
Mungan Syndrome	Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B...	OMIM:611376
Cardiofaciocutaneous Syndrome 4	Ventricular septal hypertrophy, Abnormal aortic valve morphology, Polyhydramnios, Scoliosis, Pect...	OMIM:615280
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Oligodontia, Pulmonary sequestration, Ventricular septal defect, Pectus excavatum, S...	OMIM:618330
Distal Monosomy 7Q36	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:1636
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Pectus carinatum, Kyphosis, Intestinal malrotation, Aort...	ORPHA:955
Li-Campeau Syndrome	Patellar hypoplasia, Patent ductus arteriosus, Single transverse palmar crease, Patent foramen ov...	OMIM:619189
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the maxilla, Sh...	OMIM:614261
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Everted lower lip ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Everted lower lip ...	ORPHA:363958
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Dental crowding, Abnormal sternum morphology, Premature birth, Wi...	ORPHA:93932
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormality of the hand, Short philtrum, Tooth malposition, Scoliosis, Hyperlordosis, High palate...	ORPHA:1387
16P13.11 Microdeletion Syndrome	Short nose, Gastroesophageal reflux, Talipes equinovarus, Anteverted nares, Exaggerated cupid's b...	ORPHA:261236
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Orofacial cleft, Nephronophthisis, Genu valgum, Bell-shaped thorax, Cone-s...	OMIM:615630
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Renal hypoplasia/aplasia, Abnormal renal morphology, Hyperlordosis, Pectus excava...	ORPHA:363700
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal...	ORPHA:860
Stickler Syndrome Type 1	Short nose, Platyspondyly, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology...	ORPHA:90653
Metachondromatosis	Pulmonic stenosis, Bowing of the long bones	OMIM:156250
3Mc Syndrome 1	Postnatal growth retardation, Atrial septal defect, Caudal appendage, Sacral dimple, Clinodactyly...	OMIM:257920
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Abnormal localization of kidney, Short stature, Cleft pa...	ORPHA:921
Coffin-Siris Syndrome 7	Pectus excavatum, Microdontia, Wide mouth, Broad philtrum, Bicuspid aortic valve, Oligohydramnios...	OMIM:618027
Miller-Dieker Lissencephaly Syndrome	Abnormal heart morphology, Recurrent aspiration pneumonia, Decreased fetal movement, Intrauterine...	OMIM:247200
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Intestinal malrotation, Aortic valve stenosis, Premature b...	ORPHA:2308
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac...	DECIPHER:46
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis, Retinal arterial macroaneurysms	OMIM:614224
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit...	OMIM:619433
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Retrognathia, Limited elbow movement, Kyphoscoliosis, Ventricular hypert...	OMIM:300280
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd...	OMIM:102500
Cleidocranial Dysplasia	Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal meta...	ORPHA:1452
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopathy, Esophage...	OMIM:614576
Cutis Laxa, Autosomal Dominant 3	Postnatal growth retardation, Aortic regurgitation, Unilateral renal agenesis, Tortuous cerebral ...	OMIM:616603
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Thoracic hypoplasia, Lumb...	OMIM:100800
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Clubbing, Split hand, Growth delay, Cleft upper lip, Coarctation of aorta, Cleft pal...	OMIM:600460
Cohen Syndrome	Delayed puberty, Short metacarpal, Mitral valve prolapse, Short philtrum, Short stature, Thoracic...	OMIM:216550
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Hypertension, Arachnodactyly, Coxa valga,...	ORPHA:3342
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure, Bell-shaped thorax, Crumpled long bones, Dispr...	OMIM:166210
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Mild short stature, Upper limb undergrowth, Gingival overgrowt...	OMIM:169400
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joints, Patent foram...	OMIM:618821
Codas Syndrome	Short nose, Midline defect of the nose, Hydroureter, Delayed eruption of teeth, Abnormal form of ...	ORPHA:1458
Diamond-Blackfan Anemia 7	Fetal distress, Polyhydramnios, Triphalangeal thumb, Scoliosis, Vesicoureteral reflux, Choanal at...	OMIM:612562
Stromme Syndrome	Short columella, Stillbirth, Preaxial polydactyly, Cerebellar vermis hypoplasia, Intestinal malro...	OMIM:243605
Opitz Gbbb Syndrome	Solitary median maxillary central incisor, Unilateral cleft lip, Abnormal nasopharynx morphology,...	OMIM:300000
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Dysphagia, Abnormal thorax morphology	ORPHA:638
Sarcosinemia	Pulmonic stenosis, Hypersarcosinuria, Hypertrophic cardiomyopathy	ORPHA:3129
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Scoliosis, Protruding tongue, Pulmonic stenosis, Wide mouth	OMIM:614325
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Short philtrum, Joint contracture of the 5th finger, Anteverted nares, Prominent na...	ORPHA:352490
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Patent ductus arteriosus, Predominantly lower limb lymphedema, Dental ...	ORPHA:293939
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Hypospadias, Narrow chest, Hypoplasia of penis, Antev...	ORPHA:1703
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio...	OMIM:605967
German Syndrome	Orofacial cleft, Lymphedema, High palate, Everted lower lip vermilion, Short stature, Camptodacty...	ORPHA:2077
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn...	ORPHA:2260
Kury-Isidor Syndrome	Rocker bottom foot, Widely spaced teeth, Sacral dimple, Proximal placement of thumb, Triangular m...	OMIM:619762
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Short philtrum, Narrow nasal bridge, Dental crowding, Hyperextensibility of the finger...	OMIM:309520
Stickler Syndrome	Spondylolisthesis, Abnormal form of the vertebral bodies, Pectus carinatum, Glossoptosis, Kyphosi...	ORPHA:828
Distal Deletion 12Q	Kyphoscoliosis, Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Long ...	ORPHA:96149
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Cervical ribs, Single umbilical artery, Transposition of the great...	ORPHA:2255
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Pectus excavatum, Arac...	OMIM:614437
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi...	ORPHA:2476
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, M...	ORPHA:66637
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intraute...	ORPHA:2879
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Lowry-Maclean Syndrome	Retrognathia, High, narrow palate, Short nose, Atrioventricular canal defect, Hypospadias, Midgut...	ORPHA:2409
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Hyperplasia of the maxilla,...	ORPHA:513456
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Cerebellar hypoplasia, Hypospadias, Low hanging columella, Anteverted nares, Patent foramen ovale...	ORPHA:500159
Intellectual Developmental Disorder, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Short philtrum, Slender finger, Cleft upper lip, Downturne...	OMIM:613192
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Microg...	OMIM:618021
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Leukocyte Adhesion Deficiency Type Ii	Palpebral edema, Severe periodontitis, Umbilical hernia, Intrauterine growth retardation, Overlap...	ORPHA:99843
17Q24.2 Microdeletion Syndrome	Abnormality of the wrist, Prolonged QT interval, Cubitus valgus, Short philtrum, Tooth malpositio...	ORPHA:529962
Bardet-Biedl Syndrome 10	Polydactyly, Renal insufficiency, Renal cyst	OMIM:615987
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses...	OMIM:222600
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Gastroesophageal reflux, Anteverted nares, Single transverse palmar crease, High pala...	OMIM:613604
8Q12 Microduplication Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Narrow mouth, Everted lower lip vermilion, Short ...	ORPHA:228399
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Aortic regurgitation, Ascending tubular aorta aneurysm, Pectus excavatum, Arachnodacty...	OMIM:219100
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal hip bone morphology, Abnormal aortic arch morphology, Mandib...	ORPHA:1110
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Atlantoaxial dislocation, Hypertension, Glos...	OMIM:602535
Aortic Valve Disease 2	Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t...	OMIM:614823
Apert Syndrome	Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Po...	OMIM:101200
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen...	ORPHA:37553
Floating-Harbor Syndrome	Kyphoscoliosis, Long nose, Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Nep...	ORPHA:2044
Weill-Marchesani Syndrome 3	Pulmonic stenosis, Aortic valve stenosis, Brachydactyly, Short stature	OMIM:614819
Polysyndactyly With Cardiac Malformation	Stillbirth, Polyhydramnios, Anteverted nares, Renal cyst, Duplication of phalanx of hallux, Synda...	OMIM:263630
Ververi-Brady Syndrome	Single umbilical artery, Transposition of the great arteries, Clinodactyly of the 5th finger, Wid...	OMIM:617982
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Spondylolisthesis, Pectus carinatum, Pe...	OMIM:615582
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Adams-Oliver Syndrome 1	Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Cleft upper lip,...	OMIM:100300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ascites, Alveolar ridge overgrowth, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Clef...	OMIM:235255
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Kyphosis,...	OMIM:153400
Char Syndrome	Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Ventricular septal defect, Ever...	ORPHA:46627
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Abnormality of th...	OMIM:263750
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Micrognathia, Umbilical hernia, Ventricular septal defect, Depres...	ORPHA:1918
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Spondylolisthesis, Descending thoracic aorta aneurysm, A...	OMIM:609192
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Pulmonary arterial...	ORPHA:81
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Long philtrum, Intrauterine growth retardation, Cone-shaped e...	ORPHA:439822
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Syndactyly, Intrauterine growth retardation, Hypospadias, Cerebellar vermi...	OMIM:616975
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Sandal gap, Prominent fingertip pads, Pectus excavatum, Pr...	ORPHA:96148
Noonan Syndrome 9	Hydroureter, Pulmonic stenosis, Short stature, Coarctation of aorta, Short neck, Ventricular sept...	OMIM:616559
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Single umbilical artery, Polyhydramnios, Hypoplasia of penis, Finger synd...	ORPHA:2256
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Abnormality of the dentit...	ORPHA:276422
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Hypertension, Short long bone, Aortic valve s...	OMIM:139210
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Hypospadias, Pectus carinatum, Scoliosis, Abnormality...	ORPHA:1548
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Polyhydramnios, Gastroesophageal reflux, Interrup...	OMIM:616920
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Pulmonary arterial hypertension, Right atrial enlargement...	OMIM:616028
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Sacral dimple, Scoliosis, High palate, Tapered finger, Intrauterine growth retardat...	OMIM:617452
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Ulbright-Hodes Syndrome	Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesomelia, Short humerus, A...	ORPHA:3404
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Pectus carinatum, Glossoptosis, Pectus excavatum, Micrognathia, C...	ORPHA:166100
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Kyphosis, Umbilical hernia, Long philtrum, Intrauterine gr...	ORPHA:2311
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, S...	OMIM:618167
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Wide nose, Anteverted nares...	OMIM:614607
Hydrops Fetalis	Abnormality of the kidney, Abnormality of the gastrointestinal tract, Polyhydramnios, Capillary l...	ORPHA:1041
1Q21.1 Microdeletion Syndrome	Broad thumb, Intrauterine growth retardation, Long philtrum, Abnormal cardiac septum morphology, ...	ORPHA:250989
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricular septal defect, Split han...	OMIM:618569
Charge Syndrome	Delayed puberty, Anosmia, Tracheoesophageal fistula, Dysphagia, Umbilical hernia, Bifid femur, In...	ORPHA:138
Noonan Syndrome 13	Enlarged thorax, Microdontia, Wide mouth, Mitral valve prolapse, Long philtrum, Overlapping toe, ...	OMIM:619087
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Coxa valga, H...	ORPHA:2484
Oculomaxillofacial Dysostosis	Abnormality of the nose, Tessier cleft, Underdeveloped nasal alae, Abnormality of the dentition, ...	ORPHA:1794
Intellectual Developmental Disorder, Autosomal Dominant 48	Dysgenesis of the cerebellar vermis, Hypospadias, Low hanging columella, Cerebellar vermis hypopl...	OMIM:617751
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Bilateral choanal atresia, Hypospadias, Palmoplantar keratoderma, Conical to...	OMIM:106260
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, Dysplastic tricu...	OMIM:618280
16P12.1P12.3 Triplication Syndrome	Thin vermilion border, High, narrow palate, Retrognathia, Short nose, Abnormal tricuspid valve mo...	ORPHA:485405
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Recurrent respiratory infections, Finger syndactyly, ...	ORPHA:3253
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Glossoptosis, Cerebellar atrophy, Micr...	OMIM:618356
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Acromicric Dysplasia	Cone-shaped epiphysis, Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth...	OMIM:102370
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Hi...	ORPHA:3306
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Palpebral edema, Kyphosis, Broad philtrum, Heart murmur, Bicuspid aortic valve, ...	OMIM:619475
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Broad thumb, Wide mouth, Broad phi...	OMIM:619720
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly, Smooth philtrum, Nephroblastoma, Ventricular septal defect, Depressed na...	OMIM:602501
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Dental crowding, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Aor...	ORPHA:261537
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Abn...	ORPHA:584
Short Stature-Micrognathia Syndrome	Retrognathia, Penoscrotal hypospadias, Rhizomelia, Gastroesophageal reflux, 2-3 toe syndactyly, H...	OMIM:617164
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Arachnodactyly, Contracture of the distal interphalangeal joint of the fingers, Int...	ORPHA:83617
Coffin-Siris Syndrome 3	Cerebellar hypoplasia, Wide nose, Anteverted nares, Scoliosis, Dandy-Walker malformation, High pa...	OMIM:614608
Microphthalmia, Syndromic 8	Orofacial cleft, Mandibular prognathia, Split foot, Cleft upper lip, Cleft palate, Widely-spaced ...	OMIM:601349
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, High palate, Protruding tongue, Short stature, ...	OMIM:618106
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Recurrent respiratory infections, Abnormal form o...	ORPHA:2759
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Short stature, Arachnodactyly, Micrognathia, Cleft palate, Malar flattening, Atrial...	ORPHA:93946
Kbg Syndrome	Finger clinodactyly, Anteverted nares, Oligodontia, Underdeveloped nasal alae, Single transverse ...	ORPHA:2332
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger, Chiari type I malformation, Abnormal sternum morphol...	ORPHA:137605
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Deep palmar crease, Hypospadias, Temporomandibular joint ankylosis, Slender ...	ORPHA:2872
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Postaxial hand polydactyly, Duplication of phalan...	OMIM:617127
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Symphalangism affec...	ORPHA:628
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Syndactyly, Bra...	OMIM:615982
Congenital Myopathy 1B, Autosomal Recessive	Hydrops fetalis, Polyhydramnios, Scoliosis, High palate, Pulmonary hypoplasia, Decreased fetal mo...	OMIM:255320
Nail-Patella Syndrome	Pectus excavatum, Disproportionate prominence of the femoral medial condyle, Scoliosis, Biceps ap...	OMIM:161200
Verloove Vanhorick-Brubakk Syndrome	Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Isotretinoin-Like Syndrome	Postnatal growth retardation, Abnormal aortic arch morphology, Gastroesophageal reflux, Abnormal ...	ORPHA:2306
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Short philtrum, Chiari malformation, Micrognathia, Cl...	ORPHA:3305
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Dental crowding, Anteverted nares...	OMIM:617201
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Long nose, Limited elbow movement, Enlarged metaphyses, Short metac...	ORPHA:508533
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ...	ORPHA:228190
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Thin vermilion border, Cerebellar hypoplasia, Short philtrum, Single transver...	OMIM:618622
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Sacral dimple, Wide nose, Hyperextensibility of the finger joints, Scoliosis, High ...	ORPHA:505237
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Polyhydramnios, Breech presentation, Narrow chest, Flared metaphysis...	ORPHA:2347
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Intestinal malrotation, Short stature, Downtur...	ORPHA:457193
Timothy Syndrome	Single umbilical artery, Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent forame...	OMIM:601005
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Hypospadias, Anencephaly, Dandy-Walker malformation, Post...	OMIM:614175
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Omodysplasia 2	Dislocated radial head, Bifid nasal tip, Broad femoral neck, Short humerus, Long philtrum, Bilate...	OMIM:164745
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Prominent fingertip pads, Pectus excavatum, Long philtrum...	OMIM:609625
Keutel Syndrome	Wide nose, Pulmonary arterial hypertension, Pulmonary artery stenosis, Short stature, Recurrent s...	ORPHA:85202
Sialidosis Type 2	Hydrops fetalis, Short thorax, Pectus carinatum, Ascites, Kyphosis, Short stature, Umbilical hern...	ORPHA:87876
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Pectus excavatum, Severe short stature, Int...	OMIM:270450
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Anteverted nares, High palate, Abnormality of the ureter, Micromelia, Ar...	ORPHA:1035
Au-Kline Syndrome	Retrognathia, Breech presentation, Bifid nasal tip, Hypertension, Lipomyelomeningocele, Pectus ex...	OMIM:616580
Thanatophoric Dysplasia Type 1	Short greater sciatic notch, Femoral bowing, Kyphosis, Lethal short-limbed short stature, Abnorma...	ORPHA:1860
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Proximal placement of thumb, Anteverted nares, Choanal atresia, S...	OMIM:610536
Seckel Syndrome 2	Clinodactyly of the 5th finger, Hypospadias, Ectopic kidney, Cerebellar calcifications, Microdont...	OMIM:606744
Orofaciodigital Syndrome Xi	Kyphoscoliosis, Gastroesophageal reflux, Postaxial polydactyly, Cleft palate, Hypoplasia of the o...	OMIM:612913
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Glossoptosis, Hypertensive crisis, Long philtrum, Aplasia...	ORPHA:1358
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Sacral dimple, Single transverse palmar crease, Incisor macrodontia, Narro...	OMIM:615502
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Meningocele, Short hard palate, Hydranencepha...	ORPHA:1393
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the...	OMIM:615297
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,...	OMIM:263650
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Kyphoscoliosis, Radial deviation of finger, Hypoplastic philtrum, Wide mouth, Clinodactyly, Hypos...	OMIM:309580
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Hip subluxation, Short philtrum, Gastroesophageal reflux, Narrow mouth, Intrauter...	ORPHA:447980
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short finger, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Short toe, Brachyda...	OMIM:604381
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Polyhydramnios, Narrow mouth, Anal atresia, Atrial septal defect, Ve...	ORPHA:3469
17Q23.1Q23.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Sandal gap, Abnormal epiphysis morphology, Intrauteri...	ORPHA:261279
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Hematuria, Melena, Aortic regurgitation, Hypotension, Pulmonic steno...	ORPHA:99147
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd finger, Broad thumb, Coxa valga, Cerebellar vermis hypoplasia, Scoliosis,...	OMIM:620073
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericardial effusion, No...	OMIM:617021
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Non-midline cleft of the upper lip, Convex nasal ridge, Wide nasal bridge, Underd...	ORPHA:2007
Holzgreve Syndrome	Single umbilical artery, Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Abnormally oss...	ORPHA:2167
Radio-Renal Syndrome	Retrognathia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Severe short statu...	ORPHA:3015
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Gastroesophageal reflux, Chylothorax, ...	OMIM:616843
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Proximal tubulopathy, Cardiomyopathy, Cerebellar atrophy, Kyphosis, Abnormality of t...	OMIM:212065
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H...	ORPHA:2839
Congenital Syphilis	Myocarditis, Large placenta, Pneumonia, Hydrops fetalis, Tibial bowing, High palate, Notched prim...	ORPHA:499009
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Aganglionic megacolon, Hypertension, Ventricular septal defect, Tapered finger, Promi...	OMIM:613870
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Galactosuria, Gastroesophageal reflux, Clinodactyly of the 2nd fing...	ORPHA:251061
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Gastroesophageal reflux, Finger syndactyly, Dental crowding, Mandibular prognathia, ...	ORPHA:435938
Mowat-Wilson Syndrome	Urinary incontinence, Dental crowding, Pectus carinatum, Everted lower lip vermilion, Pectus exca...	ORPHA:2152
Digeorge Syndrome	Right aortic arch with mirror image branching, Bifid uvula, Recurrent sinusitis, Ovarian cyst, Um...	OMIM:188400
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Thoracic kyphosis, Postaxial hand polyda...	ORPHA:2752
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Fetal Alcohol Syndrome	Short nose, Non-midline cleft of the upper lip, Anteverted nares, Vertebral segmentation defect, ...	ORPHA:1915
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Growth delay, Short stature, Malar flattening, Brachydactyly, Short 5th fing...	ORPHA:52056
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Dental crowding, Pectus carinatum, Pectus excavatum, Abnormal jaw morpholog...	ORPHA:261552
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormal heart morphology, Wide mouth, Syndactyly, Umbilical hernia, Clinodactyly, Abnormality of...	ORPHA:369891
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Widely-spaced maxillary central incisors, Supraventricular tachycardia with an ac...	ORPHA:404443
Holoprosencephaly 13, X-Linked	Butterfly vertebrae, Solitary median maxillary central incisor, Gastroesophageal reflux, Patent f...	OMIM:301043
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Cerebrofaciothoracic Dysplasia	Short nose, Bifid ribs, Polyhydramnios, Wide nose, Narrow chest, Cerebellar vermis hypoplasia, Sc...	ORPHA:1394
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch...	OMIM:618254
Brittle Cornea Syndrome	Scoliosis, Abnormality of the dentition, Camptodactyly, Pulmonic stenosis, Arachnodactyly, Cleft ...	ORPHA:90354
Supravalvular Aortic Stenosis	Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ...	OMIM:185500
Teebi-Shaltout Syndrome	Rocker bottom foot, Pectus carinatum, Pectus excavatum, Ureteral stenosis, Aortic valve stenosis,...	OMIM:272950
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Abnormality of the kidney, Widely spaced teeth, Cereb...	ORPHA:459061
Orofaciodigital Syndrome Ix	Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Short stature, Hand po...	OMIM:258865
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Sacral dimple, Wide nose, Low insertion of columella, Scoliosis, High palate, Short st...	OMIM:619995
Codas Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Short humeru...	OMIM:600373
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ...	OMIM:602088
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Intraut...	OMIM:608670
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Butterfly vertebrae, Gastroesophageal reflux, Dental crowding, 2-3 toe syndactyly,...	ORPHA:313892
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Renal cyst, Short stature, Broad columella, Micrognathia, Metaphyseal dysplasia...	OMIM:250410
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Patent ductus arteriosus, Renal insufficiency, Short clavicles, Vesicou...	OMIM:617159
Fetal Gaucher Disease	Stillbirth, Hydrops fetalis, Anteverted nares, High palate, Neonatal death, Intracranial hemorrha...	ORPHA:85212
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia,...	OMIM:253200
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Hypospadias, Short stature	ORPHA:141333
Juberg-Hayward Syndrome	Orofacial cleft, Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morpholog...	ORPHA:2319
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Tongue fasciculations, Decreased fetal movement, Atrial septal ...	OMIM:253300
Wiedemann-Steiner Syndrome	Contracture of the distal interphalangeal joint of the fingers, Long philtrum, Short 5th finger, ...	OMIM:605130
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Dent...	OMIM:170390
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Downturned corners of mouth, Prominent nasal bridge, Thick vermil...	OMIM:618974
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Oligodontia, Mandib...	OMIM:601216
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors...	ORPHA:363417
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Short philtrum, Recurrent viral upper respiratory tract infections, Everted...	OMIM:616898
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Abnormal renal...	ORPHA:1666
Aase-Smith Syndrome	Abnormal hip bone morphology, Dandy-Walker malformation, Scoliosis, Slender finger, Camptodactyly...	ORPHA:916
Genitopatellar Syndrome	Hypoplastic ischia, Dysphagia, Malrotation of small bowel, Scoliosis, Short phalanx of finger, Ra...	OMIM:606170
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the kidney, Polyhydramnios, Gastroesophageal reflux, Scoliosis, Long philtrum, Ove...	ORPHA:466926
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Pectus carinatum, Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Anteverted ...	OMIM:614701
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Short philtrum, Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus excavatum, Camptodactyl...	OMIM:301039
Polydactyly, Preaxial I	Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu...	OMIM:174400
Alg8-Cdg	Abnormality of the gastrointestinal tract, Hydrops fetalis, Ascites, Camptodactyly, Premature bir...	ORPHA:79325
Say Syndrome	Tapered finger, Short stature, Micrognathia, Cleft palate, Proximal renal tubular acidosis, Short...	OMIM:181180
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Atrial septal defect, Hypoplasia of the maxilla, Short stature, Micrognathia, Cleft p...	ORPHA:79113
Oculoauriculofrontonasal Syndrome	Wide nose, Encephalocele, Scoliosis, Bifid nasal tip, Narrow mouth, Micrognathia, Cleft palate, B...	ORPHA:398156
Alpha-Mannosidosis, Adult Form	Pneumonia, Aortic regurgitation, Cerebellar atrophy, Recurrent gastroenteritis, Macroglossia, Oli...	ORPHA:309288
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Cerebellar atrophy, Kyphosis, Bilateral talipes equinovarus, Dilatation of ...	OMIM:619708
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Mandibular prognathia, Pectus excavatum, Abnormal digit morphology, Short s...	OMIM:268850
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Triangular mouth, Pectus carinatum, Lymphedema, Tapered finger, Pectus ...	OMIM:607131
Trisomy 10P	Retrognathia, Abnormal heart morphology, Multiple renal cysts, Dysphagia, Intrauterine growth ret...	ORPHA:171929
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ...	OMIM:277740
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Hyperlordosis, Everted lower lip vermilion...	OMIM:615873
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Split hand, Camptodactyly, Hypoplasia of the maxilla, Renal hypoplasia...	OMIM:246560
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis, Hydronephrosis, Hydroureter	OMIM:264140
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft palate, Bifid nasal tip, High palate, Pectus excavatum, Ankyloglossi...	OMIM:618874
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Right aortic arch, Chronic rhinitis, Bronchiectasis	OMIM:617577
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short philtrum, Low hanging columella, Gastroesophageal reflux, Pectus carinatum, Scoliosis, Prom...	OMIM:300986
Zellweger Syndrome	Hypospadias, Epiphyseal stippling, High palate, Thickened nuchal skin fold, Pyloric stenosis, Sho...	ORPHA:912
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Anteverted nares, Amelia, Intestinal malrotation, Pulmonary hypop...	OMIM:601163
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Emphysema, Aortic regurgitation, Peripheral pulmonary artery stenosis, ...	OMIM:123700
De Barsy Syndrome	Kyphoscoliosis, Pectus excavatum, Decreased fetal movement, Intrauterine growth retardation, Addu...	ORPHA:2962
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology	ORPHA:85203
Congenital Tracheal Stenosis	Meckel diverticulum, Tracheoesophageal fistula, Oligohydramnios, Abnormality of the kidney, Anoma...	ORPHA:141127
Tatton-Brown-Rahman Syndrome	Thin vermilion border, Everted upper lip vermilion, Fetal distress, Chiari type I malformation, A...	OMIM:615879
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft of the upper lip, Scoliosis, Pectus excavatum, Short stature, Cleft palate, Pro...	ORPHA:85273
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased fetal movement, Short stature, Growth delay, Double outlet right ventricle, Patent duct...	OMIM:614886
Congenital Myopathy 12	High, narrow palate, Polyhydramnios, High palate, Camptodactyly, Jaw contracture, Pulmonary arter...	OMIM:612540
Noonan Syndrome	Pectus carinatum, Enlarged thorax, Pectus excavatum, Dilatation of the renal pelvis, Scoliosis, P...	ORPHA:648
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Atrial septal defect, Polycystic kidney dysplasia, Dandy...	OMIM:208540
Coach Syndrome 1	Occipital encephalocele, Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Enceph...	OMIM:216360
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervi...	ORPHA:63260
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Hand polydactyly, Coarctat...	ORPHA:261243
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Scoliosis, Hypertrophic cardiomyopathy, Dysphagia, Patent ductus arteriosus, Intraut...	OMIM:616276
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Short philtrum, High palate, Tricuspid regurgitation...	OMIM:618929
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Ventricular hypertrophy, Pulmonary arterial hypertension, Short stature, ...	OMIM:300887
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Phelan-Mcdermid Syndrome	Palpebral edema, Long philtrum, Abnormality of the kidney, Sacral dimple, Polycystic kidney dyspl...	OMIM:606232
Kyphomelic Dysplasia	Femoral bowing, Tibial bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy...	OMIM:211350
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Atrioventricular canal defect, Short first ...	OMIM:619135
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Bifid uvula, Dysphagia, Abnormality of the anus, Bicuspid aortic valve, Long phil...	OMIM:607872
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Sacral dimple, Penoscrotal hypospadias, Short stature, Cleft...	OMIM:248340
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Overlapping fingers, Recurrent respiratory infections, Narrow nasal bridge, Low hangi...	OMIM:619383
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Malar flattening, Clinodact...	OMIM:615984
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Pectus excavatum, Wide mouth, Long philtrum, Cone-shaped epiphysis, Renal atr...	OMIM:618659
Lambotte Syndrome	Retrognathia, Narrow mouth, Intrauterine growth retardation, Convex nasal ridge, Ventricular sept...	OMIM:245552
Stevenson-Carey Syndrome	Left superior vena cava draining to coronary sinus, Gastroesophageal reflux, Anteverted nares, Pr...	OMIM:611961
Orofaciodigital Syndrome Iv	Short finger, Short tibia, Tongue nodules, High palate, Pectus excavatum, Foot polydactyly, Posta...	OMIM:258860
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Wide nose, Clinodactyly of the 3rd toe, ...	ORPHA:521308
Pallister-Killian Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Intestinal malrotation, Aortic valve stenosis, Bifid...	OMIM:601803
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Scoliosis, Protruding tongue, Hypoplasia of the maxil...	OMIM:105830
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Trisomy 20P	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Everted lower lip vermilion,...	ORPHA:261318
Nevus Comedonicus Syndrome	Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco...	ORPHA:64754
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Anteverted nares, Gingival overgrowth, Vesicoureteral reflux, Protruding tongue, Premature birth,...	OMIM:618797
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Cornelia De Lange Syndrome 5	Retrognathia, Proximal placement of thumb, Long philtrum, Anteverted nares, Short stature, Cleft ...	OMIM:300882
Jawad Syndrome	Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing...	OMIM:251255
Severe Congenital Nemaline Myopathy	Edema of the dorsum of hands, Breech presentation, Hypospadias, Polyhydramnios, Thin ribs, Premat...	ORPHA:171430
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Glossoptosis, Tapered finger, Short stature, Camptodac...	ORPHA:3201
Al Kaissi Syndrome	Postnatal growth retardation, High, narrow palate, Sacral dimple, Deep palmar crease, Hemivertebr...	OMIM:617694
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Heart murmur, Short 5th finger, Long toe, Hypospadias, Short philtrum, Choana...	ORPHA:163979
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Broad secondary alveolar ridge, High palate, Short stature, Convex ...	ORPHA:3369
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower lip vermilion,...	OMIM:600920
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Everted lower lip vermilion, Long philtrum, Short finger, Sacral dimple, Hypospa...	ORPHA:459070
Fraser Syndrome 1	Renal hypoplasia/aplasia, Dental crowding, Myelomeningocele, Abnormal heart morphology, Aplasia/H...	OMIM:219000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Clinodactyly of the 5th finger, Premature birth, Cleft palate, Abnormal heart morphology, Intraut...	ORPHA:231147
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Single umbilical artery, Abnormal vertebral morphology, Cerebellar hypopl...	OMIM:300514
Koolen-De Vries Syndrome	Ureteral duplication, Everted lower lip vermilion, Microdontia, Kyphosis, Pectus excavatum, Arach...	ORPHA:96169
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Glandular hypospadias, Cerebellar atrophy, Tricuspid regurgitation, Thickened nucha...	OMIM:620306
Shprintzen-Goldberg Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Arachnod...	ORPHA:2462
Potocki-Lupski Syndrome	Atrial septal defect, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Dental crowding, Mandib...	OMIM:610883
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carinatum, Microdontia, Mitral va...	OMIM:245600
Jansen-De Vries Syndrome	Gastroesophageal reflux, Anteverted nares, Hyperlordosis, Short foot, Short stature, Wide mouth, ...	OMIM:617450
Pallister-Hall Syndrome	Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, ...	ORPHA:672
Bardet-Biedl Syndrome 5	Polydactyly, Micropenis, Syndactyly, Brachydactyly	OMIM:615983
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Spinal rigidity, Pectoralis hypoplasia, Glossoptosis, Dysphagia, Decreased fetal mo...	OMIM:254940
Schuurs-Hoeijmakers Syndrome	Single umbilical artery, Patent foramen ovale, Downturned corners of mouth, Volvulus, Wide mouth,...	OMIM:615009
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e...	ORPHA:950
Neurooculocardiogenitourinary Syndrome	Abnormality of the palmar creases, Patent foramen ovale, Tricuspid regurgitation, Abnormal cerebe...	OMIM:618652
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Mitral valve prolapse...	OMIM:182212
Distal 7Q11.23 Microdeletion Syndrome	Chiari malformation, Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Cerebellar-Facial-Dental Syndrome	Inferior cerebellar vermis hypoplasia, Severe short stature, Mitral valve prolapse, Long philtrum...	ORPHA:444072
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Everted lower lip vermilion, Pectus excavatum, Abnormal heart morphology, Wide mout...	ORPHA:96092
Trigonocephaly With Short Stature And Developmental Delay	Clinodactyly of the 5th finger, Broad alveolar ridges, High palate, Short stature, Convex nasal r...	OMIM:314320
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Narrow nasal ridge, Congenital finger flexion contractures, Wide mouth, Intra...	ORPHA:363528
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Decreased fetal movement, Intrauterine gr...	ORPHA:2671
Mosaic Trisomy 20	Retrognathia, Kyphosis, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Intrauterin...	ORPHA:1724
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxill...	OMIM:616367
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Short philtrum, Flared metaphysis...	OMIM:610758
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short metacarpal, Umbilical hernia, Anteverted nares,...	ORPHA:1001
Pseudoachondroplasia	Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone...	ORPHA:750
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Short nose, Capitate-hamate fusion, Genu valgum, Intervertebral space na...	OMIM:614078
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Agenesis of permanent ...	ORPHA:251028
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Delayed puberty, Hyposmia, Anosmia, Choanal atresia, Tooth agenesis, Ectrodactyly, Cleft upper li...	OMIM:147950
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Hypoplasia of penis, Non-midline cleft of the upper lip, Lon...	ORPHA:1752
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Mi...	ORPHA:440354
Braddock Syndrome	Unilateral renal agenesis, Scoliosis, Hemivertebrae, Pectus excavatum, Pulmonary arterial hyperte...	ORPHA:52047
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Single umbilical artery, Disproportionate short-limb short stature, Hypoplasia of penis, Abnormal...	ORPHA:2772
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Protein-losing enteropathy, Polyhydramnios, Narrow chest, Abnormal ...	ORPHA:1655
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Polyhydramnios, Bell-shaped thorax, Narrow chest, Short long bone, Postaxi...	OMIM:615633
Melkersson-Rosenthal Syndrome	Facial edema, Furrowed tongue	OMIM:155900
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Cervic...	ORPHA:93346
Filippi Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th toe, C...	ORPHA:3255
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Neonatal death, Pulmonary hypoplasia, Cerebellar hypoplasia	OMIM:615228
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Hypertens...	ORPHA:411709
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Hyposmia, Anosmia, Pectus excavatum, Cleft upper lip, Cleft palate, Fi...	OMIM:244200
Vici Syndrome	Everted upper lip vermilion, Cardiomyopathy, Dysphagia, Left ventricular hypertrophy, Long philtr...	OMIM:242840
Nager Syndrome	Abnormal palate morphology, Hypoplasia of the radius, Triphalangeal thumb, Unilateral renal agene...	ORPHA:245
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Dental crowding, Patent foramen ovale, Narrow mouth, High palate, Camptodactyly, Bila...	OMIM:615539
Trisomy X	Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Pectus excavatum, Hip dysplasia, Atrial...	ORPHA:3375
Icf Syndrome	Protruding tongue, Short stature, Micrognathia, Umbilical hernia, Recurrent respiratory infection...	ORPHA:2268
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Cervical C2/C3 vertebral fusion, High palate, Everted lower lip vermilion, ...	OMIM:616549
Sweeney-Cox Syndrome	Short distal phalanx of finger, Short philtrum, Patent foramen ovale, Choanal atresia, Broad nasa...	OMIM:617746
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Short long bone, Glossoptosis, Flat acetabular roof, Kyp...	ORPHA:94068
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Cerebellar hypoplasia, Hypospadias, Proximal placement of thumb, Patent ductus arteri...	OMIM:217980
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Kyphoscoliosis, Retrognathia, Short nose, Polyhydramnios, Recurrent lower respiratory tract infec...	OMIM:618005
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Short nose, Anteverted nares, High palate, Aspiration pneumonia, Micrognathia, Abnor...	ORPHA:314655
Cooper-Jabs Syndrome	Proximal placement of thumb, Abnormal hip bone morphology, Anteverted nares, Scoliosis, Abnormal ...	ORPHA:1488
Constricting Bands, Congenital	Tessier cleft, Ectopia cordis, Abnormal lung lobation, Encephalocele, Scoliosis, Cleft upper lip,...	OMIM:217100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Abnorma...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Bifid uvula, Abnorma...	ORPHA:352665
Blepharocheilodontic Syndrome 1	Neural tube defect, Conical tooth, Choanal atresia, Anal atresia, Cleft upper lip, Hypodontia, Cu...	OMIM:119580
Bardet-Biedl Syndrome 17	Polydactyly, Polyuria, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Hyposmia, Pos...	OMIM:615994
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate...	OMIM:114290
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Short foot, Downturned corners of mouth, Micrognathia, ...	ORPHA:254525
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Anteverted n...	OMIM:272460
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Unilateral renal...	OMIM:184705
Bardet-Biedl Syndrome 14	Polydactyly, Renal insufficiency	OMIM:615991
Johnson Neuroectodermal Syndrome	Anosmia, Everted lower lip vermilion, Choanal atresia, Carious teeth, Hand polydactyly, Cleft pal...	ORPHA:2316
Scleromyxedema	Abnormality of the hand, Abnormality of the kidney, Abnormality of the gastrointestinal tract, Ga...	ORPHA:167635
Kinsship Syndrome	Dislocated radial head, Mesomelia, Wide mouth, Cervical ribs, Coxa valga, Hip dislocation, Polyda...	OMIM:619297
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Orofacial cleft, Polyhydramnios, Narrow mouth, Aplasia/Hypoplasia involvi...	ORPHA:3301
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Talipes equinovarus, Patent foramen ovale, Everted lower lip...	OMIM:616789
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Severe intrauterine growth retardation, Atlantoaxial abnormality, P...	ORPHA:3455
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t...	OMIM:619356
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Severe short stature, Abnormality ...	ORPHA:93316
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short long bone, Prominent interphalangeal joints, Anteverted nares, Short stature, Short palm, S...	OMIM:215150
Rapp-Hodgkin Syndrome	Microdontia, Bifid uvula, Syndactyly, Small, conical teeth, Narrow nose, Taurodontia, 2-3 toe cut...	OMIM:129400
3Mc Syndrome 2	Postnatal growth retardation, Limited elbow movement, Caudal appendage, Abnormal vertebral morpho...	OMIM:265050
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Long philtrum, Abnormal fibula morphology, Abn...	ORPHA:251014
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm,...	OMIM:616738
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Cleft upper lip, Ar...	ORPHA:34217
Dilated Cardiomyopathy With Ataxia	3-Methylglutaconic aciduria, Muscular ventricular septal defect, Prolonged QT interval, Hypoplasi...	ORPHA:66634
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat...	OMIM:620107
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndacty...	ORPHA:2475
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Clinodactyly of the 5th finger, Dextrocardia, Cerebellar vermis hypoplasia, ...	OMIM:618067
Lymphatic Malformation 13	Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi...	OMIM:620244
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Widely spaced teeth, Mandibular prognathia, Protruding tongue, Wide mouth, Dysphagia	ORPHA:98795
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Unilateral ren...	OMIM:619951
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Epiphyseal stippling, Anteverted nares, Scoliosis, High palate, Stippled calcificatio...	OMIM:222765
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydac...	OMIM:235750
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly, Nephronophthisis, Micropenis	OMIM:614464
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Mowat-Wilson Syndrome	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Abnormal heart morphology, Abnormal enteri...	OMIM:235730
Arthrogryposis, Distal, Type 5D	Limited elbow movement, Anteverted nares, Scoliosis, Elbow flexion contracture, Narrow mouth, Fur...	OMIM:615065
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Breech presentation, Crumpled long bones, Vertebral compression fracture, Femoral ret...	OMIM:610682
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Inferior cerebellar vermis hypoplasia, Scoliosis, Renal dysplasia, Pectus excavatum, ...	OMIM:618571
17Q12 Microduplication Syndrome	Abnormal vertebral morphology, Polyhydramnios, Finger syndactyly, Tracheoesophageal fistula, Clef...	ORPHA:261272
Neurofibromatosis-Noonan Syndrome	Pectus excavatum of inferior sternum, Cubitus valgus, Superior pectus carinatum, Scoliosis, Pectu...	OMIM:601321
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Bartsocas-Papas Syndrome	Short nose, Renal hypoplasia/aplasia, Finger syndactyly, Underdeveloped nasal alae, Narrow mouth,...	ORPHA:1234
Lateral Meningocele Syndrome	Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbi...	OMIM:130720
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Wide nasal base, Cardiomyopathy, Long philtrum, Overlapping toe, Aplasia/Hypopla...	ORPHA:480880
Jackson-Weiss Syndrome	Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ...	ORPHA:1540
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,...	ORPHA:2063
Distal Duplication 17Q	Pectus carinatum, Arachnodactyly, Abnormal heart morphology, Wide mouth, Severe short stature, Ov...	ORPHA:3379
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Intrauterine growth retardati...	OMIM:600252
Neurocardiofaciodigital Syndrome	Polydactyly, Thin vermilion border, Retrognathia, Double inlet left ventricle, Cerebellar vermis ...	OMIM:619869
Megabladder, Congenital	Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction...	OMIM:618719
Okamoto Syndrome	Urinary incontinence, Aortic valve stenosis, Intestinal malrotation, Abnormal mitral valve morpho...	ORPHA:2729
Peroxisome Biogenesis Disorder 2A (Zellweger)	Palpebral edema, Cubitus valgus, Polycystic kidney dysplasia, Single transverse palmar crease, Ca...	OMIM:214110
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Acrofrontofacionasal Dysostosis	Hypospadias, Non-midline cleft of the upper lip, Dimple on nasal tip, High palate, Everted lower ...	ORPHA:1784
Opitz Gbbb Syndrome	Tracheoesophageal fistula, Abnormal heart morphology, Recurrent aspiration pneumonia, Dysphagia, ...	ORPHA:2745
Cog1-Cdg	Kyphoscoliosis, Short long bone, Flat acetabular roof, Long philtrum, Coxa valga, Butterfly verte...	ORPHA:263508
Radio-Tartaglia Syndrome	Retrognathia, Dental crowding, Wide mouth, Dysphagia, Long philtrum, Short philtrum, Anteverted n...	OMIM:619312
Angelman Syndrome Due To A Point Mutation	Widely spaced teeth, Mandibular prognathia, Protruding tongue, Wide mouth, Dysphagia	ORPHA:411511
Clark-Baraitser syndrome	Thick lower lip vermilion, Genu valgum, Anteverted nares, Scoliosis, Prominent median palatal rap...	OMIM:300602
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Mitral val...	OMIM:259600
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Furrowed tongue, Micromelia, Short stature, Camptodactyly...	ORPHA:2928
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Proximal placement of thumb, Hypopla...	ORPHA:199
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi...	ORPHA:763
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Mandibular prognathia, Scoliosis, Protruding tongue, Wide mouth, Dysphagia	ORPHA:98794
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Wide nose, Long penis, Severe postnatal growth retardati...	ORPHA:769
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Bilobed right lung, Postaxial hand pol...	OMIM:612284
Lambert Syndrome	Hypospadias, Branchial anomaly, Wide mouth, Malar flattening, Intrauterine growth retardation, Ve...	ORPHA:1296
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Arachnodactyly, Scoliosis, Heart murmur	OMIM:617600
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Meier-Gorlin Syndrome 1	Breech presentation, Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Intr...	OMIM:224690
Penile Agenesis	Anorectal anomaly, Tracheoesophageal fistula, Oligohydramnios, Cystic renal dysplasia, Abnormalit...	ORPHA:49
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Pectus carinatum, Clubbing, Pectus excavatum, Flared iliac wing, Recurrent bronc...	OMIM:617303
Distal Deletion 3P	Thin vermilion border, Atrioventricular canal defect, Clinodactyly of the 5th finger, Sacral dimp...	ORPHA:1620
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Abnormal fo...	ORPHA:1787
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, Pectus carinatum, High palate, Broad thumb, Microgn...	OMIM:620194
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Shor...	ORPHA:3242
Baller-Gerold Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Abnormal carpal morphology, ...	ORPHA:1225
Diprosopus	Abnormality of the nose, Anencephaly, Non-midline cleft of the upper lip, Cleft palate, Abnormal ...	ORPHA:1681
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d...	ORPHA:99094
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Long nose, Telangiectasia of extensor surfaces, Palpebral edema, Abnormal renal glomerulus morpho...	OMIM:137940
Brachydactyly-Preaxial Hallux Varus Syndrome	Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi...	ORPHA:1278
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Short long bone, Enlarged thorax, Aplasia/Hypoplasia involving the pelvis, Pectus excavatum, Hypo...	ORPHA:163654
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Renal hypoplasia/aplasia, Apla...	ORPHA:3186
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, Hypospadias, Clin...	ORPHA:217346
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Decreased fetal movement, Tricuspid atres...	OMIM:164280
Atelis Syndrome 1	Lumbar kyphosis, High palate, Prominent nose, Bronchiectasis, Carious teeth, Long philtrum, Atria...	OMIM:620184
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Sh...	OMIM:268300
Giant Cell Arteritis	Gastrointestinal infarctions, Hematuria, Recurrent pharyngitis, Glossitis, Vasculitis, Cerebral i...	ORPHA:397
King-Denborough Syndrome	Kyphoscoliosis, Breech presentation, Low hanging columella, Scoliosis, Thoracic kyphosis, High pa...	OMIM:619542
Dysostosis, Stanescu Type	Hyperlordosis, Pectus excavatum, Kyphosis, Tooth agenesis, Massively thickened long bone cortices...	ORPHA:1798
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i...	OMIM:611717
Shashi-Pena Syndrome	Retrognathia, Deep palmar crease, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Dil...	OMIM:617190
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Hypopl...	OMIM:607371
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Cerebellar hypoplasia, Pulmonary hypoplasia, Bilateral talipes equinovarus	OMIM:618174
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Hypoplasia of penis, Pectus carinatum, A...	ORPHA:3138
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Long philtrum, Sacral dimple, Short philtrum, Scoliosis, Patent ductus arteriosu...	ORPHA:261337
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Occipital encephalocele, Dysgenesis of the cerebellar vermis, Short ri...	ORPHA:397715
2Q32Q33 Microdeletion Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Dental crowding, Oligodontia, Anteverted n...	ORPHA:251019
Polycystic Kidney Disease 7	Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ...	OMIM:620056
Craniofrontonasal Syndrome	Hypoplastic nasal tip, Bifid nasal tip, Pectus excavatum, Umbilical hernia, Hypospadias, Scoliosi...	OMIM:304110
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal palate morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Narrow...	ORPHA:3082
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate, Hematuria	OMIM:120433
Coffin-Siris Syndrome	Wide nasal base, Abnormal heart morphology, Wide mouth, Broad philtrum, Intrauterine growth retar...	ORPHA:1465
Acrorenal Syndrome	Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Micro...	ORPHA:971
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis, Hepatocellular carcinoma, Cardiomyopathy, Abnormality of the dentition, Growth d...	ORPHA:88618
You-Hoover-Fong Syndrome	Kyphoscoliosis, Pectus excavatum, Double aortic arch, Coarctation of aorta, Cleft palate, Vascula...	OMIM:616954
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Recurrent aphthous stomatitis, Aortic regurgitation,...	ORPHA:117
Desbuquois Dysplasia 2	Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectu...	OMIM:615777
Vacterl With Hydrocephalus	Retrognathia, Hypoplasia of the radius, Single umbilical artery, Polyhydramnios, Esophageal atres...	ORPHA:3412
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Mend Syndrome	Polydactyly, Sacral dimple, Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Kyphosis,...	OMIM:300960
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Underdeveloped nasal alae, Short stature, Growth delay, Cleft palate, Broad ...	ORPHA:250999
Diffuse Neonatal Hemangiomatosis	Hydrops fetalis, Polyhydramnios, Renal hypoplasia/aplasia, Ascites, Premature birth, Patent ductu...	ORPHA:2123
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Hypoplastic iliac wing, Microdontia, Tooth agenesis, Abnormal cerebral vascular mor...	ORPHA:2637
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carp...	ORPHA:3238
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Wide nose, Patent foramen ovale, Cerebellar atrophy, Dysphagia, Microretrogna...	ORPHA:89844
X Small Rings	Bicuspid aortic valve, Clinodactyly of the 5th finger, Upper limb undergrowth, Anteverted nares, ...	ORPHA:96201
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Spina bifida occulta, Delayed ...	ORPHA:2780
Renal Hypodysplasia/Aplasia 4	Anhydramnios, Pulmonary hypoplasia, Bilateral renal agenesis	OMIM:619887
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Deep palmar crease	OMIM:600251
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, Single transverse p...	OMIM:613443
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Eosinophilic infiltration of the esophagus, Pulmoni...	OMIM:615508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Transposition of the great arteries, Cerebellar cyst, Encephalocele, Scoliosis, ...	OMIM:253800
Epilepsy, Progressive Myoclonic, 9	Scoliosis, Short thumb, Microglossia	OMIM:616540
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Cleft hard palate, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphy...	ORPHA:166016
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Myopathy, Centronuclear, 5	Retrognathia, Narrow mouth, High palate, Micrognathia, Bifid uvula, Hip contracture, Dilated card...	OMIM:615959
Renal Hypodysplasia/Aplasia 2	Anhydramnios, Pulmonary hypoplasia, Bilateral renal agenesis	OMIM:615721
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Flat acetabular roof, Wide proximal femoral metaphysis, Flattened epiphysis, Long philtrum, Coxa ...	ORPHA:163649
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Mandibular prognathia, High palate, Furrowed tongue, Short foot, Pectus excavatum...	OMIM:300534
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Choanal atresia, Depressed nasal rid...	OMIM:607597
Microphthalmia, Syndromic 1	Kyphoscoliosis, Radial deviation of finger, Renal hypoplasia/aplasia, Dental crowding, Prominent ...	OMIM:309800
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormal intestine morphology, Kyphosis, Dysphagia, Abnormality of the anus,...	ORPHA:1606
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Broad distal phalanx of finger, Dilatation of the cerebral artery, Aor...	OMIM:300989
Acrofacial Dysostosis, Catania Type	Hypospadias, Spina bifida occulta, Cerebellar vermis hypoplasia, Single transverse palmar crease,...	OMIM:101805
Auriculocondylar Syndrome 4	Narrow mouth, Micrognathia, Cleft palate, Glossoptosis	OMIM:620457
Distal Duplication 18Q	Bilateral single transverse palmar creases, Short nose, Clinodactyly of the 5th finger, Hypoplasi...	ORPHA:1716
15Q Overgrowth Syndrome	Retrognathia, Breech presentation, Dental crowding, Abnormality of the incisor, Abnormal renal mo...	ORPHA:314585
Scheie Syndrome	Aortic regurgitation, Everted lower lip vermilion, Mucopolysacchariduria, Rhinitis, Wide mouth, T...	ORPHA:93474
Fanconi Anemia	Abnormal carotid artery morphology, Abnormal femur morphology, Arteriovenous malformation, Renal ...	ORPHA:84
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Renal hypoplasia/aplasia, Hydranencephaly, Enlarged thorax, Camptodactyly of finger, Micrognathia...	ORPHA:2570
Intellectual Developmental Disorder, Autosomal Dominant 47	Single umbilical artery, Chiari type I malformation, Gastroesophageal reflux, Scoliosis, Increase...	OMIM:617635
Omodysplasia 1	Disproportionate short-limb short stature, Short humerus, Umbilical hernia, Long philtrum, Fibula...	OMIM:258315
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Exaggerated cupid's...	ORPHA:2662
Aminopterin Syndrome Sine Aminopterin	Oligodontia, High palate, Umbilical hernia, Arachnodactyly, Micrognathia, Cleft palate, Rudimenta...	OMIM:600325
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microdontia, Intrauterine growth retardation, Clinodactyly, Short philtrum, Scoliosis, Camptodact...	OMIM:617360
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Fetal distress, Bell-shaped thorax, Gastroesophageal reflux, Homocystinuria, Horizontal ribs, Pul...	OMIM:614857
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Meningocele, Mandibular prognathia, Scoliosis, Spina bifida, C...	ORPHA:894
Harrod Syndrome	Long nose, Abnormal shoulder morphology, Hypospadias, Scoliosis, Narrow mouth, High palate, Abnor...	ORPHA:2115
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Metacarpal osteolysis, Carpal osteolysis, Hypertension, Ulnar deviation of the ha...	OMIM:166300
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites	OMIM:619462
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Renal...	OMIM:611561
Focal Dermal Hypoplasia	Midclavicular aplasia, Ureteral duplication, Short ribs, Short metacarpal, Myelomeningocele, Inte...	OMIM:305600
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Postaxial hand p...	OMIM:603194
Coffin-Siris Syndrome 1	Duodenal ulcer, Retrognathia, Ectopic kidney, Sandal gap, Dislocated radial head, Prominent finge...	OMIM:135900
Angelman Syndrome	Widely spaced teeth, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Mandibul...	ORPHA:72
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Patent ductus arteriosus, Gastroesophageal reflux, Patent foramen ovale, Vesicouret...	ORPHA:438213
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Small pla...	ORPHA:397590
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Nijmegen Breakage Syndrome	Long nose, Sandal gap, Sinusitis, Intrauterine growth retardation, Choanal atresia, Short stature...	OMIM:251260
Alkuraya-Kucinskas Syndrome	Short nose, Overlapping fingers, Talipes equinovarus, Anteverted nares, Dandy-Walker malformation...	OMIM:617822
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Narrow chest, Anteverted nares, In...	OMIM:618961
Fraser Syndrome	Renal hypoplasia/aplasia, Anorectal anomaly, Hypoplasia of penis, Dental crowding, Myelomeningoce...	ORPHA:2052
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal metacarpal morphology, Abnormal form of the vertebral bodies...	ORPHA:93262
Beaulieu-Boycott-Innes Syndrome	Long nose, Unilateral renal agenesis, Low hanging columella, Recurrent urinary tract infections, ...	OMIM:613680
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Glomerulopathy, Hydrops fetalis, Hemolytic-uremic syndrome, Stomatitis, Gloss...	ORPHA:79282
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Femoral bowing, Dys...	OMIM:616462
Musculocontractural Ehlers-Danlos Syndrome	Kyphoscoliosis, Abnormal sternum morphology, Abnormal heart morphology, Malrotation of small bowe...	ORPHA:2953
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Tapered finger, Hypoplasia of the maxilla, Short palm, Camptodactyly of finger, Shor...	ORPHA:85279
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Intervertebral ...	OMIM:271530
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Femur fracture, Ventricular septal hypertrophy, Short clavicles, Eruptio...	OMIM:619322
Townes-Brocks Syndrome	Delayed puberty, Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Wi...	ORPHA:857
Wolcott-Rallison Syndrome	Dehydration, Ascites, Short stature, Growth delay, Metaphyseal dysplasia, Chronic kidney disease,...	ORPHA:1667
Robinow Syndrome, Autosomal Recessive 2	Sandal gap, Prominent fingertip pads, Broad thumb, Mesomelia, Bicuspid aortic valve, Long philtru...	OMIM:618529
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Treacher-Collins Syndrome	Retrognathia, Hypoplasia of penis, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide ...	ORPHA:861
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial...	OMIM:136140
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Pectus excavatum, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the...	OMIM:114300
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Narrow chest, Pectus carinatum, Mandibular prognathia, Scoliosis, High palate, Pectus excavatum, ...	OMIM:300676
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Recurrent urinary tract infections, Short stature, Coarctation of a...	OMIM:620210
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Glossoptosis, Abnormal heart morphology, Long philtrum, Fibular ...	ORPHA:444077
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe...	OMIM:108900
Van Maldergem Syndrome 2	Clinodactyly, Short 4th metacarpal, Single umbilical artery, Sacral dimple, Hypospadias, Scoliosi...	OMIM:615546
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segment...	ORPHA:1797
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Abnormal sternum morphology, Cerebellar atrophy, Abnormal heart morp...	ORPHA:487796
Hypomandibular Faciocranial Dysostosis	Short nose, Atrial septal defect, Polyhydramnios, Recurrent respiratory infections, Anteverted na...	ORPHA:1790
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Wide nasal bridge, Renal cyst, Epiphyseal stippling	OMIM:614870
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Pectus carinatum, Pectu...	ORPHA:3107
Hartsfield Syndrome	Encephalocele, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia o...	ORPHA:2117
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Umbilical hernia, Long p...	ORPHA:2496
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Hypertension, Intestinal malrotation, Unilateral cleft lip, ...	OMIM:301068
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Short nose, Triphalangeal thumb, Severe postnatal growth retardation, Dandy-W...	ORPHA:3078
Aicardi Syndrome	Delayed puberty, Butterfly vertebrae, Bifid ribs, Intestinal polyposis, Short philtrum, Gastroeso...	ORPHA:50
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ...	OMIM:141400
Isolated Osteopoikilosis	Abnormality of the kidney, Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal ...	ORPHA:166119
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu...	OMIM:620609
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Short philtrum, Wide nose, Anteverted nares, Scoliosis, Narrow mout...	ORPHA:96184
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormal femur morphology, Abnormal form of the vertebral bodies, Epistaxis, Mul...	ORPHA:464329
Woods Syndrome	Limited elbow extension, Thin vermilion border, Low hanging columella, Single transverse palmar c...	OMIM:615236
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Abnormality of the pulmonary artery, Short stature, Patent ductus...	ORPHA:290
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Genu valgum, Hypospadias, Hypoplasia of penis, Anal atresia, Tetralog...	ORPHA:1381
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Severe short...	OMIM:166250
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Kyphosis, Short s...	OMIM:258850
Lethal Recessive Chondrodysplasia	Polyhydramnios, Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia,...	ORPHA:1423
Coenzyme Q10 Deficiency, Primary, 2	Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension	OMIM:614651
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Esophagea...	OMIM:263200
Acro-Renal-Ocular Syndrome	Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasia of the ulna, A...	ORPHA:959
H Syndrome	Delayed puberty, Abnormality of the kidney, Enlarged kidney, Recurrent pharyngitis, Abnormal card...	ORPHA:168569
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Malar flattening, Patent ductus arteri...	OMIM:241310
Hurler Syndrome	Hypertension, Cardiomyopathy, Everted lower lip vermilion, Abnormal epiphysis morphology, Abnorma...	ORPHA:93473
Rhombencephalosynapsis	Polydactyly, Short nose, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Anteverted...	ORPHA:59315
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Dental crowding, High ...	ORPHA:231140
Nuchal Bleb, Familial	Stillbirth, Hydrops fetalis, Fetal cystic hygroma	OMIM:257350
Gillespie Syndrome	Cerebellar hypoplasia, Truncus arteriosus, Cerebellar atrophy	OMIM:206700
Kaufman Oculocerebrofacial Syndrome	Intestinal malrotation, Anteverted nares, Short stature, Carious teeth, Thin upper lip vermilion,...	OMIM:244450
Van Maldergem Syndrome 1	Clinodactyly, Short 4th metacarpal, Sacral dimple, Hypospadias, Scoliosis, Camptodactyly, Short f...	OMIM:601390
Aicardi Syndrome	Proximal placement of thumb, Butterfly vertebrae, Cerebellar vermis hypoplasia, Anteverted nares,...	OMIM:304050
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Proximal placement of thumb, Anteverted nares, Scolios...	ORPHA:261250
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu...	ORPHA:45452
Fetal Encasement Syndrome	Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb undergrowth, Tetralogy of Fallot, ...	OMIM:613630
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Opsismodysplasia	Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Short metacarpa...	OMIM:258480
Seckel Syndrome 5	Retrognathia, Clinodactyly of the 5th finger, Hypospadias, 11 pairs of ribs, Oligodontia, Selecti...	OMIM:613823
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect	OMIM:614300
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly,...	OMIM:614526
Alazami Syndrome	Postnatal growth retardation, Widely spaced teeth, Wide nose, Short philtrum, Slender long bone, ...	ORPHA:319671
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Butterfly vertebrae, Polyhydramnios, Rhizomelia, Hypospadias, Wide nose...	OMIM:607143
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asymmetry of the thorax, Pectus excavatum, Wide mouth, Epistaxis, Mild fetal ventriculomegaly, De...	OMIM:619841
Stickler Syndrome, Type I	Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Anteverted...	OMIM:108300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o...	OMIM:271665
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Clinodactyly of the 5th finge...	ORPHA:96179
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndact...	ORPHA:1112
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Short stature, Cleft palate, P...	ORPHA:261190
Prader-Willi Syndrome Due To Translocation	Retrognathia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Abnormal heart morphology, In...	ORPHA:177907
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Cardiomegaly, Long toe, Oligohydramnios, Narrow palate, Po...	OMIM:608836
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Long nose, Retrognathia, Hyperlordosis, Everted lower...	OMIM:620450
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Microdontia, Overlapping t...	ORPHA:221120
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal...	ORPHA:1848
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Hypospadias, Anencephaly, Renal agenesis, Cl...	OMIM:313850
Acrocephalopolydactylous Dysplasia	Short nose, Enlarged kidney, Extrapulmonary lobar sequestration, Hypoplasia of the small intestin...	OMIM:200995
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Kyphoscoliosis, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Dysphagia, Talipe...	ORPHA:496689
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse...	OMIM:224300
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Congestive heart failure, Multiple bladder diverticula, Vascular dilatation, Emphys...	ORPHA:90349
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Orofacial cleft, Polyhydramnios, Renal hypoplasia/aplasia, Hypospadias, E...	ORPHA:2166
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Single umbilical artery, Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Anal atresia, Missing r...	OMIM:271520
Mucopolysaccharidosis, Type Iiid	Broad alveolar ridges, Cerebellar atrophy, Hypoplastic vertebral bodies, Wide mouth, Dysphagia, T...	OMIM:252940
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Intestinal pseudo-obstruction, Finger syndactyly, Fetal megacystis, Arachnodactyly,...	ORPHA:73246
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Palmoplantar hyperkeratosis, Abnormality of the philtrum, Microdontia, Cleft upper lip, Micrognat...	OMIM:225060
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Hypospadias, Gastroesophageal reflux, Cerebellar vermis hypoplasia,...	ORPHA:494344
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa...	OMIM:304120
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac...	ORPHA:1856
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Long nose, Atrioventricular canal defec...	ORPHA:3047
8P11.2 Deletion Syndrome	Sacral dimple, Talipes equinovarus, Azoospermia, Hypoplasia of penis, High palate, Anosmia, Short...	ORPHA:251066
Holoprosencephaly 14	Proboscis, Aortic valve atresia, Anteverted nares, Dandy-Walker malformation, Cerebellar atrophy,...	OMIM:619895
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Cleft palate, Premature birth, Abnormal cerebral vascular morphology, Abnormal ...	ORPHA:2165
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly...	OMIM:186350
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Alagille Syndrome 1	Long nose, Short distal phalanx of finger, Stage 5 chronic kidney disease, Hypoplasia of the ulna...	OMIM:118450
Cranioectodermal Dysplasia 3	Widely spaced teeth, Nephronophthisis, Rhizomelia, Sandal gap, Narrow chest, 2-3 toe syndactyly, ...	OMIM:614099
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Glomerulopathy, Patent ductus arteriosus, Predominantly...	ORPHA:33001
Frontometaphyseal Dysplasia	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa...	ORPHA:1826
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis, Dysphagia, Diffuse cerebellar atrophy	ORPHA:477774
10Q22.3Q23.3 Microdeletion Syndrome	Tricuspid valve prolapse, Atrioventricular canal defect, Intestinal polyposis, Anteverted nares, ...	ORPHA:276413
17Q11 Microdeletion Syndrome	Delayed puberty, Hypertension, Gastrointestinal stroma tumor, Kyphosis, Pulmonic stenosis, Abnorm...	ORPHA:97685
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Single umbilical artery, Single naris, Choanal atresia, Anal atresi...	OMIM:273395
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Pectus excavatum, Microdontia, Bifid...	OMIM:613458
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, H...	ORPHA:881
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Intrauterine growth retard...	OMIM:620076
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve...	OMIM:250460
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi...	ORPHA:1529
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer...	OMIM:108720
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Chiari type II malformation, Pectus excavatum, Myelome...	OMIM:613686
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Talipes equinovarus, Encephalocele, Meningocele, Bifid nasal tip, Thick nasa...	ORPHA:1827
Hartnup Disorder	Glossitis, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria, Short stature	OMIM:234500
Buratti-Harel Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Hypospadias, Gastroesophageal reflux, Dilat...	OMIM:619314
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Limited elbow movement, Dental crowding, Hypertension, Sinus tachycardia...	OMIM:614008
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Scoliosis, High palate, Choanal atresia, Pectus excavatum, Short stature, Cleft pal...	ORPHA:52055
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Ureterocele, Split foot, Abnormal nasopharynx morphology, Oligodontia, Selective too...	OMIM:129900
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finger, Cervical r...	OMIM:601812
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di...	OMIM:101800
Farber Disease	Abnormality of the hand, Short finger, Abnormality of the wrist, Atelectasis, Hydrops fetalis, Ab...	ORPHA:333
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Retrognathia, Hypoplasia of the radius, Fibular hypoplasia, Single transv...	OMIM:227270
Pontocerebellar Hypoplasia, Type 17	Gastroesophageal reflux, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Kyphosis...	OMIM:619909
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Small intestine carcinoid, Hypotension, Pulmonic stenosis, Intestinal fistula...	ORPHA:100078
Aneurysm Of Sinus Of Valsalva	Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Stroke, Dilatation of the...	ORPHA:1054
Waardenburg Syndrome Type 3	Atelectasis, Narrow nasal bridge, Abnormality of the upper limb, Abnormal finger morphology, Syno...	ORPHA:896
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Bilateral single transverse palmar creases, Kyphoscoliosis, Pectus carinatum,...	ORPHA:488642
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Dandy-Walker malformation, Scoliosis, Short sta...	OMIM:614207
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Solitary median maxillary central incisor, Intrauterine growth retardation, Overlap...	OMIM:613026
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Polyhydramnios, Esophageal varix, Ascites, Portal hypertension, Nonimmu...	ORPHA:367
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Polyhydramnios, Thick upper lip vermilion, Nephrocalcinosis, Wide mout...	OMIM:611087
49,Xxxxy Syndrome	Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormal epiphysis morphology, Coxa valga, Hip dis...	ORPHA:96264
Reactive Arthritis	Aortic regurgitation, Recurrent aphthous stomatitis, Recurrent urinary tract infections, Inflamma...	ORPHA:29207
Syngap1-Related Developmental And Epileptic Encephalopathy	Thin vermilion border, Hypospadias, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth,...	ORPHA:544254
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Solitary median maxillary central incisor, Dental crowding, Contracture of the prox...	OMIM:301044
Acromelic Frontonasal Dysostosis	Dilation of Virchow-Robin spaces, Bifid nasal tip, Absent fetal nasal bone, Syndactyly, Encephalo...	OMIM:603671
Lethal Congenital Contracture Syndrome 1	Widening of cervical spinal canal, Abnormality of the amniotic fluid, Micrognathia, Neonatal deat...	OMIM:253310
Warsaw Breakage Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-...	OMIM:613398
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Short nose, Palmar pits, Odontogenic keratocysts of the jaw, Delaye...	ORPHA:77301
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Nephroblastoma, Long hallux, Large hand...	OMIM:617107
Multiple Epiphyseal Dysplasia Type 4	Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim...	ORPHA:93307
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Short dist...	OMIM:616331
Orofaciodigital Syndrome Type 14	Epispadias, Supernumerary tooth, Aplasia of the epiglottis, Deviation of the hallux, Dandy-Walker...	ORPHA:434179
Distal Deletion 6P	Orofacial cleft, Clinodactyly of the 5th finger, Short philtrum, Wide nose, Talipes equinovarus, ...	ORPHA:96125
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Arachnodactyly, Bifid uvula, Abnormal heart morphology, Dysphagia, Absent thumb, ...	ORPHA:500150
Distal Duplication 5Q	Hypoplasia of the ulna, Thin vermilion border, Short nose, Hypoplasia of the radius, Hypospadias,...	ORPHA:96097
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor...	ORPHA:90650
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Congestive heart failure, Polyhydramnios, Nephrocalcinosis, Wide mouth, Tented upper lip vermilio...	ORPHA:500533
Renal Hypodysplasia/Aplasia 1	Retrognathia, Bilateral renal agenesis, Hypertension, Pulmonary hypoplasia, Proteinuria, Renal dy...	OMIM:191830
7Q11.23 Microduplication Syndrome	Retrognathia, Pectus excavatum, Aortic valve stenosis, Abnormal columella morphology, Sacral dimp...	ORPHA:96121
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Retrognathia, Deviated nasal septum, Tooth malposition, Mandibular prognathia, Right bundle branc...	OMIM:619576
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Kyphoscoliosis, Thick lower lip vermilion, Clinodactyly of the 5th finger, Single transverse palm...	OMIM:620075
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse...	OMIM:177170
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil...	ORPHA:363611
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microdontia, Ureterocele, Split foot, Abnormal nasopharynx morphology, Urethr...	OMIM:604292
Blepharonasofacial Malformation Syndrome	Wide nose, Finger syndactyly, Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, L...	ORPHA:1252
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Breech presentation, Short long bone, Hyperlordosis, Metaphyseal irregularity, Long philtrum, Hip...	OMIM:616007
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
White-Sutton Syndrome	Broad thumb, Bifid uvula, Intrauterine growth retardation, Short philtrum, Patent foramen ovale, ...	OMIM:616364
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Peutz-Jeghers Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Biliary tract neoplasm, Multiple renal cysts...	ORPHA:2869
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ...	OMIM:620570
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Anteverted nares, Single...	OMIM:618619
Lethal Congenital Contracture Syndrome 9	Short umbilical cord, Polyhydramnios, Talipes equinovarus, Anteverted nares, Thoracic kyphoscolio...	OMIM:616503
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Narrow nasal ridge, Pectus excavatum, Left ventricular hypertrophy, Long philtrum, De...	OMIM:619127
Chops Syndrome	Short nose, High, narrow palate, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Anteve...	OMIM:616368
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology...	ORPHA:2522
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Ventricular hypertrophy, Hypertension, Ascites, Nephrocalcinosis, Abn...	ORPHA:51608
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cerebellar atrophy, Protruding tongue	OMIM:619580
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Delayed puberty, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Short philt...	OMIM:300967
Poland Syndrome	Aplasia of the pectoralis major muscle, Renal hypoplasia/aplasia, Asymmetry of the thorax, Abnorm...	ORPHA:2911
Free Sialic Acid Storage Disease	Hydrops fetalis, Abnormality of the upper limb, Ascites, Nephrotic syndrome, Proteinuria, Recurre...	ORPHA:834
Sponastrime Dysplasia	Kyphoscoliosis, Dilatation of the cerebral artery, Disproportionate short-limb short stature, Sho...	ORPHA:93357
Congenital Enterovirus Infection	Myocarditis, Fetal distress, Hydrops fetalis, Polyhydramnios, Pleural effusion, Cardiomyopathy, H...	ORPHA:292
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Syndactyly, Intrauterine growth retardation, Broad ribs, Hypospadias, Elbow flex...	OMIM:151050
Gabriele-De Vries Syndrome	Thick lower lip vermilion, Sandal gap, Patent foramen ovale, High palate, Abnormality of the dent...	OMIM:617557
Joubert Syndrome 37	Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, High palate, Postaxial polydactyly, Sh...	OMIM:619185
Slc35A2-Cdg	Transient nephrotic syndrome, Abnormality of the hand, Hip subluxation, Abnormal long bone morpho...	ORPHA:356961
Renpenning Syndrome 1	Pectus excavatum, Hypospadias, Short philtrum, Phimosis, Scoliosis, Camptodactyly, Short stature,...	OMIM:309500
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Vascular dilatation, Tubular luminal dilatation, Postaxial polydactyly, Fetal per...	OMIM:219730
Fraser Syndrome 3	Abnormal lung lobation, Stillbirth, Sonographic non-visualized fetal bladder, Wide nose, Hypoplas...	OMIM:617667
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, 2-3 toe syndactyly, Scoliosis, High palate, Tapered finger, Hypoplasia of the maxilla...	OMIM:218000
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Anteverted nares, Scoliosis, Pectus excavatum, Postaxial polydactyly, ...	OMIM:616362
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Pneumonia, Sacral dimple, Single umbilical artery, Polyhydramnios, Pelv...	OMIM:603467
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Vascular dilatation, Gastroesophageal reflux, Back pain, Multiple re...	ORPHA:2924
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis...	OMIM:618728
Anophthalmia Plus Syndrome	Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Vertebral segmentation...	ORPHA:1104
Bilateral Perisylvian Polymicrogyria	Gastroesophageal reflux, Cerebellar vermis hypoplasia, Choanal atresia, Pectus excavatum, Protrud...	ORPHA:98889
Mitral Valve Prolapse 1	High, narrow palate, High palate, Pectus excavatum, Mitral valve prolapse, Mitral regurgitation, ...	OMIM:157700
Isolated Dandy-Walker Malformation	Dandy-Walker malformation, Cleft palate, Tetralogy of Fallot, Encephalocele	ORPHA:217
Werner Syndrome	Neoplasm of the oral cavity, Congestive heart failure, Rocker bottom foot, Renal neoplasm, Athero...	ORPHA:902
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Delayed eruption o...	ORPHA:1071
Left Ventricular Noncompaction 1	Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact...	OMIM:604169
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Thin ribs, Abnormality of the cal...	ORPHA:163966
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Short nose, Ectopic kidney, C...	ORPHA:1519
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Low hanging columella, Renal cyst, Short stature, Coarctation of aorta, Mitral stenosis, Wide mou...	OMIM:617260
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Short stature, Broad nasal tip, Short di...	ORPHA:2776
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Proximal placement of thumb, Short philtrum, 2-3 toe syndactyly, Scoliosis, Hypertrophic cardiomy...	OMIM:619121
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of toe, Intrauterine growth retardation, Pro...	ORPHA:1292
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Edema, Abnormality of the bladder, A...	ORPHA:79404
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Abnormal nasopharynx morphology, Short distal phalanx of finger...	OMIM:269150
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Chiari type I malformation, Pyloric stenosis, Short stature, Malar flattening, Paten...	OMIM:218350
Diamond-Blackfan Anemia 10	Ectopic kidney, Choanal atresia, Short stature, Growth delay, Micrognathia, Cleft palate, Supernu...	OMIM:613309
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Cerebral berry aneurysm, Polycystic kidney dysplasia, Hypertension, Colonic diverticula, Mitral v...	OMIM:173900
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Al-Raqad Syndrome	Short nose, Sandal gap, Narrow mouth, Brachydactyly, Atrial septal defect, Thin upper lip vermilion	OMIM:616459
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Neonatal short-limb short stature, Encephalocele, Narrow chest, Sho...	OMIM:224400
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Dandy-Walker malformatio...	OMIM:267010
Transaldolase Deficiency	Thin vermilion border, Short philtrum, Patent foramen ovale, Coarctation of aorta, Wide mouth, Pa...	OMIM:606003
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dent...	OMIM:101600
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Neonatal death, Cerebellar hypoplasia, Ventricular septal defect, Cystic renal dy...	OMIM:613730
Stuve-Wiedemann Syndrome 2	Stillbirth, Congestive heart failure, Scoliosis, Short long bone, Bowing of the long bones, Pulmo...	OMIM:619751
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Scapular winging, Unilateral cleft palate, Pectus excavatum, Six lumbar vertebr...	OMIM:619122
Developmental And Epileptic Encephalopathy 111	Single transverse palmar crease, Sinus tachycardia, Hypertension, Nephrolithiasis, Premature vent...	OMIM:620504
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Rectal prolapse, Protein-losing enteropathy, High, narrow palate, Gastr...	ORPHA:79076
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, Urinary incontinence, Polyhydramnios, Talipes equinovarus, Narrow chest, Ante...	OMIM:301041
Fibrochondrogenesis 2	Short nose, Bell-shaped thorax, Metaphyseal cupping, Anteverted nares, Hypoplastic pubic bone, Sh...	OMIM:614524
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Short nose, Intestinal polyposis, Foot polydactyly, Preaxial hand p...	ORPHA:210548
Ciliary Dyskinesia, Primary, 20	Absent outer dynein arms, Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial h...	OMIM:615067
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal de...	ORPHA:1782
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Hypoplasia of the pons, Atrial septal defect, Ventricular septal defect	OMIM:614249
Trisomy 9P	Bilateral single transverse palmar creases, Sacral dimple, Clinodactyly of the 5th finger, Dental...	ORPHA:236
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Cervical spinal canal stenosis, Tarsal synostosis, Spondylolisthesis, Barrel-shaped chest, Pectus...	OMIM:178110
Hydrolethalus	Retrognathia, Gingival cleft, Polyhydramnios, Anencephaly, Postaxial hand polydactyly, Micromelia...	ORPHA:2189
Kawasaki Disease	Myocarditis, Congestive heart failure, Cheilitis, Abnormal pulmonary interstitial morphology, Rec...	ORPHA:2331
Microform Holoprosencephaly	Orofacial cleft, Short nose, Solitary median maxillary central incisor, Short philtrum, Hypoplasi...	ORPHA:280200
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Yellow-brown discoloration of the teeth, Abnormality of prenatal development or birth...	OMIM:619229
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Kyphosis, Dental malocclusion, Tongue atrophy	OMIM:141300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Intrauterine growth re...	ORPHA:364577
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Fi...	ORPHA:87
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Tibial bowing, Mitral valve prolapse, Renal...	ORPHA:500095
Monosomy 18P	Kyphoscoliosis, Short philtrum, Tooth malposition, Hypertension, Lymphedema, Enlarged thorax, Pec...	ORPHA:1598
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Neonatal death, Endocardial fibroelastosis	OMIM:276822
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Postaxial hand poly...	ORPHA:2091
Meier-Gorlin Syndrome 5	Gastroesophageal reflux, Slender long bone, Intrauterine growth retardation, Hypoplasia of the ma...	OMIM:613805
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Tricuspid valve prolapse, Mandibular prognathia, Scoliosis, Pectus excavatum...	ORPHA:1101
Methimazole Embryofetopathy	Polyhydramnios, Esophageal atresia, Hypospadias, Abnormal aortic morphology, Choanal atresia, Tra...	ORPHA:1923
Myopathy, Myofibrillar, 8	Spinal rigidity, Recurrent lower respiratory tract infections, Joint contracture of the 5th finge...	OMIM:617258
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios	ORPHA:163596
Focal Facial Dermal Dysplasia Type Iv	Cleft upper lip, Cleft palate, Intracranial hemorrhage	ORPHA:398189
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Arteriovenous malformation, Finger syndactyly, Abnormality of the upper limb, Sc...	ORPHA:1556
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Meningocel...	ORPHA:2789
Bardet-Biedl Syndrome 2	Postaxial hand polydactyly, Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, ...	OMIM:615981
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, M...	OMIM:601499
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm...	ORPHA:536532
Trichorhinophalangeal Syndrome, Type I	Pectus carinatum, Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the prox...	OMIM:190350
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Orofacial cleft, 3-Methylglutaconic aciduria, Abnormal renal collecting system morph...	ORPHA:17
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Anal atresia, Renal hypoplasia, Thoracolumbar scoliosis, S...	OMIM:601389
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, Meningocele, Anteverted nares, Glossoptosis, Renal cy...	ORPHA:2031
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Severe intrauterine growth retardation, Microdontia, Abnormal heart morphology, ...	ORPHA:96182
Parietal Foramina 1	Cleft upper lip, Cleft palate, Encephalocele	OMIM:168500
Gapo Syndrome	Palpebral edema, Asymmetry of the thorax, Abnormal form of the vertebral bodies, Everted lower li...	ORPHA:2067
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Pectus carinatum, Abnormal heart morphology, Deep palmar crease, Patent foramen ...	ORPHA:505248
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand, Choanal atresia, Ab...	ORPHA:1300
Thakker-Donnai Syndrome	Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Antev...	ORPHA:1780
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, High palate, Choanal atresia, Pectus excavatum, Short stature, Thoracolumbar scolio...	OMIM:300472
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Abnormal renal morphology, Patent foramen ova...	OMIM:609053
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Pulmonary arterial hypertens...	ORPHA:2519
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Pectus...	OMIM:619910
48,Xxxy Syndrome	Hypoplasia of penis, Abnormal epiphysis morphology, Coxa valga, Hip dislocation, Taurodontia, Azo...	ORPHA:96263
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Microdontia...	ORPHA:2322
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Tachyc...	ORPHA:137675
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Dumbbell-shaped femur, Flexion c...	ORPHA:485
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, ...	OMIM:619736
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Ehlers-Danlos Syndrome, Classic-Like, 2	Hammertoe, Cervical C2/C3 vertebral fusion, Aortic root aneurysm, Shoulder dislocation, High pala...	OMIM:618000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Gastroesophageal reflux, Dental crowding, Ventricular septal defect, Pe...	OMIM:619769
Carpenter Syndrome	Polydactyly, Kyphoscoliosis, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad th...	ORPHA:65759
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Femoral bowing, Flat ace...	OMIM:608728
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Ascites, Renal cyst, Dilatation of the cerebral artery	OMIM:174050
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Dental crowding, Pectus excavatum, Microdontia, Premature birth, Wide mouth, Decreas...	OMIM:618268
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Multiple bladder diverticula, Widely spaced teeth, Microdontia, Hyp...	ORPHA:2728
1Q44 Microdeletion Syndrome	Thin vermilion border, Scoliosis, Exaggerated cupid's bow, High palate, Vesicoureteral reflux, In...	ORPHA:238769
Meier-Gorlin Syndrome 3	Absent sternal ossification, Short ribs, Intrauterine growth retardation, Genu varum, Hypospadias...	OMIM:613803
Rhyns Syndrome	Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Abnormal acet...	ORPHA:140976
Spondyloepimetaphyseal Dysplasia, Krakow Type	Delayed pubic bone ossification, Rhizomelia, Irregular epiphyses, Clinodactyly of the 5th finger,...	OMIM:618162
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Ovarian cyst, Urethral stenosis, Long toe, Stage 5 chronic kidney disease, Abnormal...	OMIM:614527
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal form of the verteb...	ORPHA:3109
Jacobsen Syndrome	U-Shaped upper lip vermilion, Short nose, Clinodactyly of the 5th finger, Hypospadias, Recurrent ...	OMIM:147791
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Cerebellar atrophy, Hypertension, Narrow mouth, High palate, Camptodactyly,...	OMIM:617729
Hyperphosphatasia-Intellectual Disability Syndrome	Pectus excavatum, Shortening of all distal phalanges of the fingers, Bifid uvula, Broad philtrum,...	ORPHA:247262
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Umbilical hernia, Broad hallux phalan...	ORPHA:380
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, Short thorax	OMIM:601809
Acrocephalopolydactyly	Short nose, Abnormal renal morphology, Short long bone, Depressed nasal ridge, Limb undergrowth, ...	ORPHA:221054
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Palmoplantar keratoderma, Polyhydramnios, Ventricular bige...	OMIM:620519
Acrofrontofacionasal Dysostosis 1	Acetabular dysplasia, Oligodontia, Mandibular prognathia, Short metacarpal, Pectus excavatum, Bro...	OMIM:201180
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular acidosis, Patent foramen ovale, Dehydration, Oligohydramnios, Micrognathia, Nephroc...	OMIM:208085
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Dental crowding, Bifid uvula, Nephrocalcinosis, Patent foramen ov...	OMIM:300990
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Cubitus valgus, Anteverted nares, Mandibular prognathia, Scoliosis, High palate, Pectus carinatum...	OMIM:619750
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Aase-Smith Syndrome I	Dandy-Walker malformation, Slender finger, Cleft palate, Open mouth, Ventricular septal defect, T...	OMIM:147800
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, Arteriovenous malformation, Chylothorax, Arteriovenous fistula, Neuroge...	ORPHA:137667
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebellar cyst, Cerebellar gliosis, Gastroesophageal reflux, Single transverse palmar crease, Lo...	ORPHA:79243
Familial Bicuspid Aortic Valve	Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic ar...	ORPHA:402075
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Broad philtrum, Intrauterine growth retardation, Clinodactyly, Patent foramen ovale,...	OMIM:620186
Hydrolethalus Syndrome 2	Anencephaly, Postaxial hand polydactyly, Micrognathia, Cleft palate, Preaxial foot polydactyly, P...	OMIM:614120
Joubert Syndrome 7	Nephronophthisis, Genu valgum, Encephalocele, Scoliosis, Postaxial hand polydactyly, Renal cyst, ...	OMIM:611560
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Tubulointerstitial nephritis,...	OMIM:616901
Alpha-Thalassemia	Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effus...	ORPHA:846
Campomelic Dysplasia	Femoral bowing, Tibial bowing, Short long bone, Kyphosis, Hip dislocation, Fibular hypoplasia, Sc...	ORPHA:140
Microcephaly 30, Primary, Autosomal Recessive	Fetal distress, Clinodactyly of the 5th finger, Cleft soft palate, Increased nuchal translucency,...	OMIM:620183
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Pectus excavatum, Aortic valve stenosis, Wide mouth, ...	OMIM:231050
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Scoliosis, High pa...	ORPHA:457279
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o...	ORPHA:3097
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Recurrent respiratory infections, Pedal edema, Chy...	OMIM:265300
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Urethral valve, Umbilical he...	OMIM:107480
D-Bifunctional Protein Deficiency	Retrognathia, Polyhydramnios, Hammertoe, Talipes equinovarus, High palate, Split hand, Renal cyst...	OMIM:261515
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Polyhydramnios, Epiphyseal stippling, Short metacarpal, Pulmonary hypoplasia, Short distal phalan...	ORPHA:86822
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Dental crowding, Long p...	OMIM:257850
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Kyphoscoliosis, Delayed puberty, Dental crowding, Wide mouth, Left ventricular hypertrophy, Short...	ORPHA:466791
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Shor...	OMIM:614921
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal interstitial fibrosi...	OMIM:619902
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Butterfly vertebrae, Vesicoureteral reflux, Aortic valve stenosis, Renal hy...	OMIM:617660
Combined Oxidative Phosphorylation Deficiency 57	Cardiac arrest, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Fetal...	OMIM:620167
Neonatal Marfan Syndrome	Increased arm span, High, narrow palate, Tricuspid valve prolapse, Emphysema, Abnormal cardiac ve...	ORPHA:284979
Ramos-Arroyo Syndrome	Deviated nasal septum, Aganglionic megacolon, Smooth tongue, Anteverted nares, Narrow mouth, Cari...	ORPHA:1051
Bresek Syndrome	Aganglionic megacolon, Scoliosis, Vesicoureteral reflux, Postaxial hand polydactyly, Hemivertebra...	ORPHA:85284
Mend Syndrome	Sacral dimple, Abnormal nasal bridge morphology, Dandy-Walker malformation, 2-3 toe syndactyly, H...	ORPHA:401973
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Tetralogy of Fallot, Agenesis of cerebellar vermis, Cerebellar hypoplasia...	OMIM:601322
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Short stature, Sl...	OMIM:608154
Megalencephaly	Genu valgum, Long penis, Short neck, Atrial septal defect, Wide nasal bridge	ORPHA:2477
Donnai-Barrow Syndrome	Short nose, Intestinal malrotation, Short sternum, Broad nasal tip, Non-acidotic proximal tubulop...	OMIM:222448
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Stomatitis, Glossitis, Growth delay, Cleft palate, Abnormal heart morp...	ORPHA:79284
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Polyhydramnios, Recurrent respiratory infections, Ventricu...	OMIM:243150
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Kabuki Syndrome 1	Prominent fingertip pads, Intestinal malrotation, Recurrent aspiration pneumonia, Short 5th finge...	OMIM:147920
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Hip subluxation, Gastroesophageal reflux, Renal tubular acidosis, Patent foramen oval...	OMIM:613457
Nephronophthisis 15	Polydactyly, Cerebellar vermis hypoplasia, Nephronophthisis	OMIM:614845
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Hypospadias, Hypoplastic ischia, Intrauterine growth retardation, Depres...	OMIM:616910
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hypospadias, Esophageal atresia, Hypoplasia of penis, 11 pairs of ...	ORPHA:77298
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f...	OMIM:156550
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Tooth agenesi...	ORPHA:534
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Pectus excavatum, Kyphosis, Arachnodactyly, Severe short stature, Long phi...	ORPHA:2215
Hand-Foot-Genital Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Hypospadias, Proximal placement of thumb, Short fi...	ORPHA:2438
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Homocystinuria, Stomatitis, Glossitis, Cystathioninuria, High palate, Tracheoesopha...	OMIM:277380
Pontocerebellar Hypoplasia, Type 1B	Cerebellar cyst, Tongue fasciculations, Cerebellar atrophy, Growth delay, Tongue atrophy, Hip dis...	OMIM:614678
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod...	ORPHA:158687
Kapur-Toriello Syndrome	Orofacial cleft, Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Tetralog...	ORPHA:2328
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent...	ORPHA:2041
Pearson Syndrome	Postnatal growth retardation, Steatorrhea, Hydrops fetalis, Corneal stromal edema, Cardiomyopathy...	ORPHA:699
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Chiari type I malformation, Short philtrum, Renal tubular acidosis, Short st...	OMIM:619575
Facioscapulohumeral Muscular Dystrophy 1	Retinal telangiectasia, Scapular winging, Dysphagia, Shoulder girdle muscle weakness, Tongue atrophy	OMIM:158900
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thin vermilion border, Anteverted nares, Pectus carinatum, Thoracic kyphoscoliosis, High palate, ...	ORPHA:481152
Zimmermann-Laband Syndrome 1	Short distal phalanx of toe, Cardiomyopathy, Wide mouth, Umbilical hernia, Short distal phalanx o...	OMIM:135500
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, High palate, Narrow mouth, Anal atres...	ORPHA:989
Joubert Syndrome 16	Polydactyly, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Renal cyst	OMIM:614465
Acrocraniofacial Dysostosis	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Pectus excavatum, Flared ili...	ORPHA:949
Hypochondroplasia	Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Short long...	OMIM:146000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Biconvex vertebral bodies, Hypoplastic iliac wing, Pectus carinatum, Tibial bowing, Short long bo...	ORPHA:93315
Systemic Sclerosis	Nail bed telangiectasia, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal phalangeal joint ...	ORPHA:90291
Bartsocas-Papas Syndrome 2	Bilateral cleft palate, Absent distal phalanges, Micrognathia, 2-5 finger cutaneous syndactyly, A...	OMIM:619339
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Polyhydramnios, Renal tubular acidosis, Tongue fasciculations, Cardiomyopathy, Renal ...	OMIM:614922
15q26 overgrowth syndrome	Abnormal finger morphology, Arachnodactyly, Abnormal toe morphology, Long philtrum, Duplication o...	DECIPHER:81
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Hematuria, Abnormal...	ORPHA:77261
C Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Dislocated radial head, Pec...	ORPHA:1308
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Single transverse palmar crease, Irregular dentition, Slender finger, Arachnodactyl...	OMIM:615656
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Everted lower lip v...	ORPHA:800
Singleton-Merten Syndrome 1	Aortic arch calcification, Eruption failure, Short dental root, Expanded phalanges with widened m...	OMIM:182250
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Anencephaly, Encephalocele, Dandy-Walker malformati...	ORPHA:564
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Gastroesophageal reflux, Abno...	ORPHA:220386
Alobar Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Gastroesophageal reflux, Abno...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Gastroesophageal reflux, Abno...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, Proboscis, Single naris, Gastroesophageal reflux, Abno...	ORPHA:93924
Marshall Syndrome	Small proximal tibial epiphyses, Hypoplastic nasal bone, Bifid uvula, Irregular femoral epiphysis...	OMIM:154780
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Situs inversus totalis, Renal dysplasia, Hypospadias	OMIM:615985
Desmosterolosis	Abnormality of the nose, Retrognathia, Short nose, Renal hypoplasia/aplasia, Narrow mouth, Microm...	ORPHA:35107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Cardiomyopathy, Cerebellar dysplasia, Cerebellar hypoplasia, Macrog...	OMIM:613155
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Eisenmenger Syndrome	Aortopulmonary window, Clubbing, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart m...	ORPHA:97214
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Narrow chest, Delayed eruption of teeth, Bowing of the long bones...	ORPHA:667
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Myoglobinuria, Abnormality of the amniotic fluid, Arrh...	OMIM:609015
3Q29 Microduplication Syndrome	Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Camptodactyly of toe, Short ...	ORPHA:251038
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Short stature, Atrial septal defect	OMIM:113301
Craniolenticulosutural Dysplasia	Thin vermilion border, Wide nose, Delayed eruption of teeth, Narrow chest, Premature loss of teet...	ORPHA:50814
Solar Urticaria	Abnormal tongue morphology, Angioedema, Periorbital edema, Syncope, Abnormal lip morphology, Edema	ORPHA:97230
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Dilated fourth ventricle, Co...	ORPHA:261183
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne...	OMIM:236700
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Prominent nasal bridge, Tented upper lip vermilion, Smooth philtr...	ORPHA:313781
Pseudo-Torch Syndrome 1	Anteverted nares, Patent foramen ovale, High palate, Umbilical hernia, Microretrognathia, Patent ...	OMIM:251290
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Open mouth, Decreased fetal movement	OMIM:616816
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification	OMIM:114065
Branchiooculofacial Syndrome	Proximal placement of thumb, Hyperlordosis, Kyphosis, Malrotation of colon, Intrauterine growth r...	OMIM:113620
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Polyhydramnios, Hypoplasia of penis, Narrow mouth, Mandibular aplasia, Mi...	ORPHA:990
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Finger syndactyly, Abnormality of the dentition, Depress...	ORPHA:178303
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Stippled calcification in carpal bones, Edema, Abnormal thorax morphology, Rhizom...	OMIM:302960
Alveolar Echinococcosis	Abnormal vertebral morphology, Abnormal sternum morphology, Abnormal bladder morphology, Budd-Chi...	ORPHA:284
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Dandy-Walker malformation, Postaxial hand polydactyly, Clef...	OMIM:607361
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Bardet-Biedl Syndrome	Retrognathia, Hypoplasia of penis, Dental crowding, Hypertension, Cardiomyopathy, Microdontia, Ab...	ORPHA:110
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Ascites, Oliguria, Stage 5 chronic ki...	ORPHA:731
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormality of the urethra, Abnormal metacarpal morphology, Abnorma...	ORPHA:2907
Igg4-Related Aortitis	Intestinal obstruction, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Aortic...	ORPHA:449400
Pontocerebellar Hypoplasia, Type 8	Gastroesophageal reflux, Anteverted nares, Patent foramen ovale, Scoliosis, Tented upper lip verm...	OMIM:614961
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplastic coccygeal vertebrae, Dilation of Virchow-Robin spaces, Dislocated radial head, Narrow...	OMIM:619512
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ...	OMIM:614954
Intellectual Developmental Disorder, Autosomal Recessive 65	Thin vermilion border, Contracture of the proximal interphalangeal joint of the 4th finger, Hypos...	OMIM:618109
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Kyphosis, Inflammation of the large intestine, Sacroiliac arthritis, Back p...	OMIM:106300
Trisomy 12P	Short nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Anal atresia, Thickened ...	ORPHA:1699
Lymphatic Malformation 8	Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ...	OMIM:618773
Auriculocondylar Syndrome	Difficulty in tongue movements, Abnormality of the temporomandibular joint, Dental crowding, Mand...	ORPHA:137888
Geleophysic Dysplasia 2	Short nose, Cone-shaped epiphysis, Tricuspid stenosis, Pulmonary arterial hypertension, Short foo...	OMIM:614185
Hypoglossia With Situs Inversus	Situs inversus totalis, Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia	OMIM:612776
Maternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Cleft upper lip, Cleft palate, Slender long bone	ORPHA:96181
Lymphatic Malformation 12	Polyhydramnios, Pleural thickening, Lymphedema, Fetal pericardial effusion, Fetal pleural effusio...	OMIM:620014
Joubert Syndrome 3	Atrial septal defect, Nephronophthisis, Elongated superior cerebellar peduncle, Cerebellar vermis...	OMIM:608629
Mandibuloacral Dysplasia	Postnatal growth retardation, Abnormal tongue morphology, Dental crowding, Short clavicles, Osteo...	ORPHA:2457
Laurin-Sandrow Syndrome	Abnormality of the nose, Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, A...	ORPHA:2378
Cronkhite-Canada Syndrome	Intestinal polyposis, Stomach cancer, Lymphedema, Tapered finger, Furrowed tongue, Hamartomatous ...	ORPHA:2930
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Single umbilical artery, Tibial torsion, Hyposmia, Pelvic kidney, Patent foramen...	OMIM:618653
Congenital Myopathy 11	Polyhydramnios, Breech presentation, Patent ductus arteriosus, Patent foramen ovale, Decreased fe...	OMIM:619967
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Vascular dilatation, Wide nasal bridge, Epiphyseal stippling	OMIM:614859
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Gastroesophageal reflux, Stroke, Cardiomyopathy, Short stature, Arrhythmi...	OMIM:249270
Ear-Patella-Short Stature Syndrome	Retrognathia, Hypoplasia of penis, Bifid uvula, Severe short stature, Abnormal epiphysis morpholo...	ORPHA:2554
Mucopolysaccharidosis Type 2, Severe Form	Temporomandibular joint ankylosis, Cardiomyopathy, Hypertension, Dermatan sulfate excretion in ur...	ORPHA:217085
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Pectus excavatum, Shield chest, Thoracic scoliosis, Short neck, Bilateral cleft lip	OMIM:616994
Anencephaly 2	Anencephaly, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Median cleft upper lip	OMIM:619452
Nephronophthisis 20	Nephronophthisis, Scoliosis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, R...	OMIM:617271
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Syncope, Premature ventricular contraction, Aplasia/Hypoplasia of the ...	OMIM:192445
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Orofacial cleft, Long nose, Short nose, Proximal plac...	ORPHA:261211
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr...	OMIM:605376
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Ulnar bowing, Narrow chest, Abnormal renal morphology, Femoral bowing, Choana...	OMIM:207410
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Everted lower lip vermilion, Long philtrum, Clinodactyly, Anteverted na...	OMIM:608156
Branchioskeletogenital Syndrome	Upper limb peromelia, Pectus excavatum, Ureteral stenosis, Bifid uvula, Umbilical hernia, Blephar...	ORPHA:1299
Joubert Syndrome 2	Nephronophthisis, Dysgenesis of the cerebellar vermis, Encephalocele, Elongated superior cerebell...	OMIM:608091
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Ohdo Syndrome, Sbbys Variant	Hypospadias, Microdontia, Micrognathia, Cleft palate, Long hallux, Dilated cardiomyopathy, Bulbou...	OMIM:603736
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Congestive heart failure, Clinodactyly of the 5th finge...	ORPHA:2108
Frontorhiny	Encephalocele, Scoliosis, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the ma...	ORPHA:391474
Luo-Schoch-Yamamoto Syndrome	Short philtrum, Wide nose, Anteverted nares, Narrow mouth, Tricuspid regurgitation, Wide mouth, T...	OMIM:619460
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Elevated pulmonary artery pressure, Bidirectional shunt, Thoracic aortic aneurysm,...	OMIM:619351
Mucopolysaccharidosis Type 2, Attenuated Form	Temporomandibular joint ankylosis, Cardiomyopathy, Hypertension, Dermatan sulfate excretion in ur...	ORPHA:217093
Neurooculorenal Syndrome	Intestinal malrotation, Broad philtrum, Mitral valve prolapse, Anhydramnios, Stage 5 chronic kidn...	OMIM:620305
Cowden Syndrome 5	Scoliosis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615108
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Tricuspid regurgitation, Hypoplasia of the maxi...	ORPHA:228396
21Q22.11Q22.12 Microdeletion Syndrome	Postnatal growth retardation, Thick lower lip vermilion, Sacral dimple, Acromesomelia, Cone-shape...	ORPHA:261323
Feingold Syndrome	Orofacial cleft, Clinodactyly of the 5th finger, Esophageal atresia, Abnormal form of the vertebr...	ORPHA:1305
Mosaic Trisomy 8	Deep palmar crease, Clinodactyly of the 5th finger, Wide nose, Narrow chest, Anteverted nares, Sc...	ORPHA:96061
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Dilatation of celiac artery, Dental crowding, Scoliosis, High palate, ...	OMIM:619329
Transketolase Deficiency	Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Proportionate short stature...	ORPHA:488618
Saethre-Chotzen Syndrome	Narrow palate, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha...	ORPHA:794
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra...	ORPHA:730
Arthrogryposis And Ectodermal Dysplasia	Kyphoscoliosis, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, S...	OMIM:601701
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor...	ORPHA:1457
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Short nose, Single transverse palmar crease, Pectus carinatum, High palate, K...	OMIM:617527
Pai Syndrome	Midline defect of the nose, Encephalocele, Nasal polyposis, Abnormal oral frenulum morphology, Cl...	ORPHA:1993
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Single transverse palmar crease, High palate, Short stature, Cerebellar dysplasia, Hip dysplasia,...	ORPHA:457240
Bardet-Biedl Syndrome 1	Abnormality of the kidney, High, narrow palate, Aganglionic megacolon, Radial deviation of finger...	OMIM:209900
Osteogenesis Imperfecta, Type X	Tibial bowing, Dentinogenesis imperfecta, Thoracic hypoplasia, Broad ribs, Rhizomelia, Fibular bo...	OMIM:613848
Joubert Syndrome With Ocular Defect	Orofacial cleft, Aganglionic megacolon, Abnormal vertebral morphology, Dextrocardia, Encephalocel...	ORPHA:220493
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Urinary incontinence, Dysphagia, Intrauterine growth retardation, Short 5th finger, Sh...	OMIM:619522
Marshall Syndrome	Short nose, Thick lower lip vermilion, Genu valgum, Anteverted nares, High palate, Abnormality of...	ORPHA:560
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Increase...	OMIM:113650
Momo Syndrome	Thick lower lip vermilion, Wide nasal base, Delayed eruption of teeth, Femoral bowing, High palat...	ORPHA:2563
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Corneal neovascularization, Hypertension, Umbilical hernia, Oligohydramnios, Hip dislocation, But...	OMIM:308205
Geroderma Osteodysplasticum	Kyphoscoliosis, Beaking of vertebral bodies, Recurrent lower respiratory tract infections, Verteb...	OMIM:231070
Spondylo-Ocular Syndrome	Thin vermilion border, Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis,...	ORPHA:85194
Long Qt Syndrome 3	Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib...	OMIM:603830
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Micrognathia, Hydronephrosis, Decreased fetal movement, Edema, Dilated cardiomyop...	OMIM:607598
Spondyloocular Syndrome	Duodenal ulcer, Femur fracture, Vertebral compression fracture, Long toe, Pectus carinatum, Lymph...	OMIM:605822
Mogs-Cdg	Retrognathia, Pulmonary edema, Polyhydramnios, Wide nose, High palate, Generalized edema, Left ve...	ORPHA:79330
Bohring-Opitz Syndrome	Retrognathia, Bradycardia, Pectus excavatum, Intrauterine growth retardation, Cardiomegaly, Abnor...	ORPHA:97297
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Tapered finger, Renal cyst, Carious teeth, Clinodactyly, Down-sloping shoulders...	OMIM:615560
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Metaphyseal enchondromatosis, Metaphyseal irregularity, Long philtrum, Intrauterine...	ORPHA:99646
Perlman Syndrome	Distal ileal atresia, Everted upper lip vermilion, Polyhydramnios, Interrupted aortic arch, Long ...	OMIM:267000
Myasthenic Syndrome, Congenital, 10	Decreased fetal movement, Tongue atrophy	OMIM:254300
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly...	OMIM:153100
Pulmonary Hypertension, Primary, 1	Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri...	OMIM:178600
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Retrognathia, Short clavicles, Recurrent shoulder dislocation, Cardiomyopathy, Finger joint contr...	OMIM:212112
Beck-Fahrner Syndrome	Cardiomegaly, High palate, Open mouth, Hip dysplasia, Long philtrum, Ventricular septal defect	OMIM:618798
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Gastroesophageal reflux, Anteverted nares, Patent foramen ovale, Vesicourete...	OMIM:618076
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth r...	OMIM:618839
Delpire-Mcneill Syndrome	Ventricular septal defect, Dysphagia, Tracheoesophageal fistula, Hip dislocation	OMIM:619083
Kyphoscoliotic Ehlers-Danlos Syndrome	Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Arachnodactyly, Dislocated wrist, Umbilical h...	ORPHA:536545
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia, Occipital encephalocele, Oligohydramnios	OMIM:615397
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft upper lip, Cleft palate	OMIM:179400
Crane-Heise Syndrome	Talipes equinovarus, Hypoplasia of penis, Finger syndactyly, Anteverted nares, Abnormally ossifie...	ORPHA:1512
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Short stature, Growth delay, Bicuspid aortic valve,...	OMIM:617744
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Patent ductus arteriosus, 11 pairs of ribs, Severe postnatal growth retardation, Patent foramen o...	OMIM:620005
Congenital Diaphragmatic Hernia	Intestinal malrotation, Prominent sternum, Pulmonary hypoplasia	ORPHA:2140
Cowden Syndrome 6	Scoliosis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the...	OMIM:615109
Vacterl Association With Hydrocephalus	Stillbirth, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column,...	OMIM:276950
Larsen-Like Syndrome, Lethal Type	Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Dandy-Walker malformation, Hydronephrosis, Cerebellar hypoplasia, Atrial septal de...	OMIM:613001
Gaucher Disease	Delayed puberty, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Hematuria, Abnormal...	ORPHA:355
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Stroke, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, A...	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Premature birth, Intraute...	OMIM:618835
3-Methylglutaconic Aciduria, Type Iv	Single transverse palmar crease, Cerebellar dysplasia, 3-Methylglutaric aciduria, Biventricular h...	OMIM:250951
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, High palate, Tapered finger, Aortic valve stenosis, Broad thu...	OMIM:614501
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia, Nephronophthisis	OMIM:614844
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Pectus carinatum, K...	OMIM:183900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of ...	ORPHA:306542
Metaphyseal Chondrodysplasia, Jansen Type	Clinodactyly of the 5th finger, Tooth malposition, Hypercalciuria, Metaphyseal cupping, Clubbing ...	OMIM:156400
Scarf Syndrome	Hepatocellular adenoma, Wide nasal base, Abnormal form of the vertebral bodies, Pectus carinatum,...	ORPHA:3134
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Thick lower lip vermilion, Emphysema, Slender long bone, Narrow mouth, Hyp...	OMIM:613804
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Pectus excavatum, Bifid uvula, Broad philtrum, ...	OMIM:211380
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Proximal tibial and fibular fusion, Hypertension, Femoral bo...	ORPHA:95699
Culler-Jones Syndrome	Postaxial polydactyly, Cleft upper lip, Short stature, Cleft palate, Micropenis	OMIM:615849
Myopathy, Myofibrillar, 7	Spinal rigidity, Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow fle...	OMIM:617114
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum, Short stature	OMIM:618123
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Hypoplasia of penis, Micrognathia, Patent ductus arteriosus, Ventricular s...	ORPHA:452
Multiple Acyl-Coa Dehydrogenase Deficiency	Congestive heart failure, Glutaric aciduria, Polycystic kidney dysplasia, Hyperlordosis, Cardiomy...	ORPHA:26791
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic...	OMIM:616277
Cowden Syndrome 1	Scoliosis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the...	OMIM:158350
Aapoaiv Amyloidosis	Hypertension, Coronary artery atherosclerosis, Abnormal cardiac ventricular function, Left ventri...	ORPHA:439232
Pseudo-Torch Syndrome 2	Fetal distress, Bradycardia, Thin ribs, Pleural effusion, Ascites, Abnormal renal corticomedullar...	OMIM:617397
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Large hands, Sm...	OMIM:157980
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Gastroesophageal reflux, Cyst of the ductus choledochus, Scoliosis...	OMIM:619480
Neu-Laxova Syndrome 2	Rocker bottom foot, Polyhydramnios, Cerebellar hypoplasia, Finger syndactyly, Scoliosis, High pal...	OMIM:616038
Coffin-Siris Syndrome 12	Pectus excavatum, Broad thumb, Heart murmur, Enlarged cerebellum, Hypospadias, Anteverted nares, ...	OMIM:619325
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Osteoarthritis of the elbow, Pleuritis, Ascites, Coxa vara, Camptodactyly of toe,...	ORPHA:2848
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Retrognathia, Bicuspid aortic valve, Polyhydramnios, Cubitus valgus...	OMIM:613563
Schisis Association	Anencephaly, Encephalocele, Tracheoesophageal fistula, Anal atresia, Micromelia, Spina bifida, Re...	ORPHA:63862
Diets-Jongmans Syndrome	Polyhydramnios, Breech presentation, Hypospadias, Low hanging columella, Interrupted inferior ven...	OMIM:618846
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,...	ORPHA:69735
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Intestinal malrotation, Growth delay, Hydronephrosis, Wide mouth, Gastrointestinal d...	OMIM:617798
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Retrognathia, Long nose, Aplasia/hypoplasia of the fe...	ORPHA:2636
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Shor...	ORPHA:15
Pfeiffer Syndrome Type 3	Short nose, Short hallux, Finger syndactyly, Vesicoureteral reflux, High palate, Choanal atresia,...	ORPHA:93260
Charcot-Marie-Tooth Disease, Type 4C	Hammertoe, Tongue fasciculations, Scoliosis, Talipes equinovarus, Tongue atrophy	OMIM:601596
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Joubert Syndrome With Hepatic Defect	Orofacial cleft, Occipital encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Ante...	ORPHA:1454
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip, Tetraamelia, Arrhythmia, Aminoaciduria	OMIM:273400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Dental crowding, Pectus carinatum, Pectus excavatum, Bifid uvula, Short philtrum,...	OMIM:309583
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short stature, Growth delay, Cl...	ORPHA:370930
3-Methylglutaconic Aciduria Type 7	Pneumothorax, 3-Methylglutaconic aciduria, Cardiomyopathy, Cerebellar atrophy, Renal cyst, Growth...	ORPHA:445038
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Alzahrani-Kuwahara Syndrome	Hypospadias, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enlargement, Ventr...	OMIM:619268
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Hypoplasia of the radius, Unilateral renal agenesis, Ectopic kidney...	OMIM:610832
Joubert Syndrome 35	Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Anteverted nares, Single tr...	OMIM:618161
Aymé-Gripp Syndrome	Rocker bottom foot, Pericarditis, Long philtrum, Reduced arm span, Abnormal thorax morphology, Ol...	ORPHA:1272
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal...	OMIM:601612
Joubert Syndrome 17	Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Atypical Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Tongue atrophy	ORPHA:216873
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Renal tubular epithelial necrosis, Dicarboxylic aciduria, Heart block, Cereb...	ORPHA:228308
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Esophageal atresia, Duplicated collecting system, Pelvic kidney, Tracheoesophagea...	OMIM:227646
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s...	OMIM:150230
Matthew-Wood Syndrome	Vesicoureteral reflux, Renal hypoplasia, Abnormal lung morphology, Duodenal stenosis, Pulmonary h...	ORPHA:2470
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Donnai-Barrow Syndrome	Short nose, Intestinal malrotation, Proteinuria, Umbilical hernia, Ventricular septal defect, Dep...	ORPHA:2143
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Intestinal polyposis, Arteriovenous malformation, Wide nose, Aortic an...	ORPHA:109
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Familial Atrial Myxoma	Congestive heart failure, Dilatation of the cerebral artery, Vascular dilatation, Bacterial endoc...	ORPHA:615
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Hydrops fetalis, Oral ulcer, Parotitis, Ascending tubular aorta aneurysm...	OMIM:620376
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Scoliosis, Areflexia of upper limbs, Talipes equinovarus, Tongue atrophy	OMIM:616155
Chromosome 13Q14 Deletion Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen ovale, High palat...	OMIM:613884
Orofaciodigital Syndrome X	Retrognathia, Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen...	OMIM:165590
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B...	ORPHA:199306
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Short nasal bridge, Ovarian cyst, U...	OMIM:618188
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Femoral bowing, Short metacarpal, Overlapping toe, Small epiphyses, Scoliosis, Short fourth metat...	OMIM:616723
Joubert Syndrome 21	Occipital encephalocele, Single naris, Bell-shaped thorax, Encephalocele, Elongated superior cere...	OMIM:615636
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Premature birth, Nonimmune hydrops fetalis, Intrauterine growth retardation	OMIM:618838
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Absent outer dynein arms, Dextrocardia, Nasal congestion, Nasal polyposis...	OMIM:616037
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Atrial septal defect, Atrioventricular canal defect, Anasarca, Necroti...	OMIM:619573
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Gastroesophageal reflux, Bradycardia, Tongue fasciculations, S...	ORPHA:70
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Hyperlordosis, Microdontia, Eclabion, Wide mouth, Sacral ...	OMIM:619950
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation...	OMIM:218600
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Urinary urgency, Hypoplasia of the maxilla, Urinary bladder sphincter dysfu...	OMIM:300266
Crouzon Syndrome	Narrow palate, Choanal atresia, Hypoplasia of the maxilla, Cerebellar hypoplasia, Chiari malforma...	ORPHA:207
Antley-Bixler Syndrome	Short nose, Narrow chest, Anteverted nares, Abnormal renal morphology, Femoral bowing, Narrow mou...	ORPHA:83
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Bulbous nose, Thin upper lip ...	OMIM:618737
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Cerebellar cyst, Encephalocele, Scoliosis, Cerebellar dysplasia, Cleft upper lip...	OMIM:613150
Meckel Syndrome, Type 9	Occipital encephalocele, Sonographic non-visualized fetal bladder, Limb undergrowth, Multicystic ...	OMIM:614209
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Protein-losing enteropathy, Lymphangiectasis, Proximal tubulopathy, Renal cyst, Edem...	OMIM:602579
Geleophysic Dysplasia 3	Limited elbow movement, Pneumonia, Polyhydramnios, Anteverted nares, Short foot, Epiphyseal dyspl...	OMIM:617809
Joubert Syndrome 27	Polydactyly, Thick lower lip vermilion, Dilatation of the renal pelvis	OMIM:617120
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Ectopic kidney, Anorectal anomaly, Aplasia/Hypopla...	ORPHA:233
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Asymmetry of the th...	ORPHA:744
Ring Chromosome 7 Syndrome	Severe intrauterine growth retardation, Bifid uvula, Heart murmur, Short 5th finger, Hypospadias,...	ORPHA:1449
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Brachydactyly, Tricuspid regurgitation	OMIM:600151
Isolated Cleft Lip	Situs inversus totalis, Supernumerary maxillary incisor, Polyhydramnios, Talipes equinovarus, Non...	ORPHA:199302
Tracheal Agenesis	Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Narrow chest, Scoliosis, Short long bone, Short stature, Brachydactyly, Hepatic cyst...	OMIM:613819
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Galactosuria, Short philtrum, Mandibular prognathia, Organic aciduria, S...	ORPHA:85276
Meckel Syndrome 12	Rocker bottom foot, Anteverted nares, Bilateral renal agenesis, Ureteral hypoplasia, Renal hypopl...	OMIM:616258
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Scoliosis,...	OMIM:118100
Fabry Disease	Delayed puberty, Abnormal femur morphology, Hypertension, Left ventricular hypertrophy, Transient...	ORPHA:324
Lathosterolosis	Short nose, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Butterfly vertebrae, Lumb...	OMIM:607330
Paternal Uniparental Disomy Of Chromosome 5	Kyphoscoliosis, Polyhydramnios, Abnormal fibular epiphysis morphology, Rhizomelic arm shortening,...	ORPHA:96190
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Cervical myelopathy, Deformed forearm bones, A...	ORPHA:321
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypoplastic aortic arch, Anteverted na...	ORPHA:457284
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Patellar hypoplasia, Talipes equinovarus, Median cleft palate, Bilateral talipes equi...	OMIM:119800
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Atypical Werner Syndrome	Rocker bottom foot, Delayed puberty, Hypertension, Aortic valve stenosis, Mitral valve prolapse, ...	ORPHA:79474
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, 3-Methylglutaconic aciduria, Congestive heart failure, Prolonged QT...	OMIM:610198
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Short long bone, Tibial bowing, Short metacarpal, C...	OMIM:608940
Frontofacionasal Dysplasia	Tessier cleft, Short nose, Encephalocele, Non-midline cleft of the upper lip, Dimple on nasal tip...	ORPHA:1791
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Postnatal growth retardation, Pulmonary edema, Peripheral edema, Recurre...	ORPHA:75249
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele, Abnormality of the urinary system, Agenesis of ce...	OMIM:213010
Pycnodysostosis	Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Narrow iliac wing, Osteo...	OMIM:265800
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Thick lower lip vermilion, Platyspondyly, Anteverted nares, Increased inter...	OMIM:619727
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet...	OMIM:619313
Ring Chromosome 12 Syndrome	High, narrow palate, Abnormal 5th finger morphology, Glandular hypospadias, Pectus excavatum, Sym...	ORPHA:1439
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Postnatal growth retardation, Retrognathia, Left-to-right shunt, Eclabion, Cerebral edema, Modera...	OMIM:620510
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Vertebral compression fracture, Narrow chest, Angulated humerus, Short long bone, Bow...	OMIM:616229
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Cerebellar ...	OMIM:210730
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Scoliosis, Synostosis of car...	ORPHA:2307
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, High palate, Pectus excavatum, Micrognathia, Coronary-pulmonary artery fistula	OMIM:619699
Cerebrooculonasal Syndrome	Narrow palate, Short nose, Postnatal growth retardation, Solitary median maxillary central inciso...	OMIM:605627
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kidne...	OMIM:617056
Gorlin Syndrome	Orofacial cleft, Abnormal vertebral morphology, Bifid ribs, Palmar pits, Odontogenic keratocysts ...	ORPHA:377
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Scarf Syndrome	Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus carinatum, Thickened nuchal sk...	OMIM:312830
Saethre-Chotzen Syndrome	Narrow palate, Long nose, Clinodactyly of the 5th finger, Absent first metatarsal, Hallux valgus,...	OMIM:101400
Pfeiffer Syndrome Type 2	Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, High palate, Choanal atresia...	ORPHA:93259
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst, Spontaneous pneumothorax, Large intestinal poly...	OMIM:135150
Myopathy With Extrapyramidal Signs	Anteverted nares, Growth delay, Cerebellar dysplasia, Tented upper lip vermilion, Short neck, Ven...	OMIM:615673
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Enlarged Parietal Foramina	Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Cle...	ORPHA:60015
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Retrognathia, Abnormal placenta morphology, Cardiomegaly, Gingival ...	ORPHA:96191
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Clinodactyly of the 5th finger, Gastroesophageal reflux, Scoliosis, Ventricular septal defect, Hy...	OMIM:616682
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Histiocytoid cardiomyopathy, Single transverse palmar crease, Anal atresia, Short st...	OMIM:309801
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebellar vermis atrophy, Preaxial polydactyly	ORPHA:163681
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Talipes equinovarus, Flared metaphysis, Aortic root aneurysm, Dysplasia of the fe...	OMIM:615349
Hartsfield Syndrome	Hypospadias, Wide nose, Hypoplasia of the frontal bone, Ectrodactyly, Growth delay, Cleft upper l...	OMIM:615465
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Intraute...	ORPHA:1352
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Disproportionate short-limb short stature, Short long bone, Short ribs, Cupped ribs, Metaphyseal ...	OMIM:250420
Hemochromatosis, Neonatal	Intrauterine growth retardation, Oligohydramnios, Nonimmune hydrops fetalis	OMIM:231100
Atrial Septal Defect, Sinus Venosus Type	Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria...	ORPHA:99105
Alstrom Syndrome	Polydactyly, Congestive heart failure, Scoliosis, Hypertension, Gingivitis, Abnormality of the de...	OMIM:203800
Gorlin-Chaudhry-Moss Syndrome	Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentition, Hypoplasia of the maxi...	ORPHA:2095
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Short long bone, Femoral bowing, Hyperlordosis, Kyphos...	OMIM:618019
Dpagt1-Cdg	Prolonged QT interval, Cerebellar hypoplasia, Scoliosis, Camptodactyly, Abnormal cerebellum morph...	ORPHA:86309
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Narrow chest, Short long bone, Bilat...	OMIM:620454
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ...	OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Meningoencephalocele, Anal atresia, Cerebella...	OMIM:236670
Meckel Syndrome 13	Polycystic kidney dysplasia, Micrognathia, Occipital encephalocele, Cerebellar hypoplasia	OMIM:617562
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Thin ribs, Ascites, Ankyloglossia, Short stature, Brachydac...	OMIM:602361
Diphallia	Ureteral duplication, Bifid penis, Abnormal heart morphology, Absent thumb, Renal malrotation, Pe...	ORPHA:227
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora...	ORPHA:530
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Micropenis, Unilateral renal agenesis, Increased overbite	OMIM:618504
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Chiari type I malformation, Scoliosis, Vesicoureteral reflux, Mild p...	OMIM:120330
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Solitary Median Maxillary Central Incisor	Solitary median maxillary central incisor, Prominent median palatal raphe, Anosmia, Choanal atres...	OMIM:147250
Joubert Syndrome	Situs inversus totalis, Orofacial cleft, Aganglionic megacolon, Encephalocele, Abnormal form of t...	ORPHA:475
Agel Amyloidosis	Blepharochalasis, Cardiomyopathy, Respiratory tract infection, Proteinuria, Orthostatic hypotensi...	ORPHA:85448
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia, Bifid uvula, Glossoptosis	OMIM:615706
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia, Anal atresia, Short stature	ORPHA:93950
Magel2-Related Prader-Willi-Like Syndrome	Decreased fetal movement, Gastroesophageal reflux, Narrow nasal bridge, Recurrent respiratory inf...	ORPHA:398069
Marcus-Gunn Syndrome	Postnatal growth retardation, Choanal atresia, Nephrolithiasis, Cleft palate, Abnormal heart morp...	ORPHA:91412
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Bifid uvula, High palate, Median cleft upper lip	OMIM:155145
Congenital Disorder Of Glycosylation, Type Iim	Short philtrum, Vesicovaginal fistula, Gastroesophageal reflux, Mandibular prognathia, Exaggerate...	OMIM:300896
Hereditary Mucoepithelial Dysplasia	Hematuria, Anorectal anomaly, Abnormality of the bladder, Gingival overgrowth, Furrowed tongue, T...	ORPHA:1839
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Polyhydramnios, Coat hanger sign of ribs, Abnormal ...	ORPHA:254534
Cystic Echinococcosis	Abnormality of the vertebral column, Abnormal subpleural morphology, Renal cyst, Abnormal heart m...	ORPHA:400
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Gastritis, Recurrent aphthous stomatitis, Neoplasm of the tongue, Vasculitis, He...	ORPHA:3261
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Gingival fibromatosis, Renal cell carcinoma,...	OMIM:191100
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Hypertension, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Renal ...	OMIM:615986
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ...	OMIM:181450
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Scoliosis, Hyperlordosis, Scapular winging, Intrinsic hand muscle atrophy,...	OMIM:620285
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Clubbing of fingers, Glossitis, Clubbing, Hamartomatous polyposis, He...	OMIM:175500
Barth Syndrome	3-Methylglutaconic aciduria, Congestive heart failure, Recurrent bronchitis, Mandibular prognathi...	OMIM:302060
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Retrognathia, Atrial septal defect, Congestive heart failure, Pneumothorax, Ascen...	OMIM:617403
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short long bone, Hyperlordosis, Severe short stature, Thoracic hypoplasia, Metaphyseal irregulari...	ORPHA:93352
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, ...	ORPHA:782
Immunodeficiency 49	Short philtrum, Pulmonary artery stenosis, Micrognathia, Natal tooth, Umbilical hernia	OMIM:617237
Adnp Syndrome	Urinary incontinence, Sandal gap, Abnormal finger morphology, Broad thumb, Abnormal toe morpholog...	ORPHA:404448
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Right atrial en...	OMIM:619424
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Right ventricular hypertrophy,...	OMIM:613404
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Recurrent lower respiratory tract infections, Delayed eruption of teeth...	ORPHA:508542
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Syndactyly, Cervical ribs, Long ph...	OMIM:148050
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,...	ORPHA:3241
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hyperechogenic kidneys, Reduced renal...	OMIM:617610
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Hematuria, Supraventricular arrhythmia, Retinal hemorrhage, Renal ...	OMIM:611773
Microphthalmia, Syndromic 3	Postnatal growth retardation, Butterfly vertebrae, Esophageal atresia, Hypospadias, Hemivertebrae...	OMIM:206900
Holoprosencephaly 2	Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Aplasia of the prem...	OMIM:157170
Dyskeratosis Congenita	Palmoplantar keratoderma, Anorectal anomaly, Periodontitis, Recurrent respiratory infections, Sco...	ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Wide nose, Gastroesophageal reflux, Narrow chest,...	OMIM:619525
Senior-Loken Syndrome 9	Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tu...	OMIM:616629
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Biemond Syndrome Ii	Preaxial hand polydactyly, Short stature	OMIM:210350
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1484
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Retinal telangiectasia, Chiari type I malformation, Low hanging columella, Mandibul...	OMIM:620157
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Arteriovenous fistula, Arterial dissection, Premature birth, Mitral valve...	ORPHA:287
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Short humerus, Hypoplastic facial bones, Dysphagia, Long philtrum, Intrauteri...	OMIM:264090
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Hypospadias, Hypertrophic cardiomyopathy, Short stature, Micropenis	OMIM:613673
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Prolonged QT interval, Pectus excavatum, Bicuspid aortic valve, Short 4th metaca...	ORPHA:1772
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Delayed puberty, Anal fissure, Gastroesophageal reflux, Narrow mouth, Abnormal esophagus morpholo...	ORPHA:89842
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Polyhydramnios, L...	ORPHA:3144
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti...	OMIM:614473
Acromegaly	Macrodactyly, Palpebral edema, Hypertension, Kyphosis, Deep palmar crease, Broad jaw, Abnormality...	ORPHA:963
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate	OMIM:614402
Primary Non-Essential Cutis Verticis Gyrata	Scoliosis, Atrial septal defect, Ventricular septal defect	ORPHA:357225
Curry-Jones Syndrome	Anal stenosis, Chiari type I malformation, Intestinal pseudo-obstruction, Triphalangeal hallux, L...	OMIM:601707
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Choreoacanthocytosis	Temporomandibular joint crepitus, Dilated cardiomyopathy, Dysphagia, Protruding tongue	ORPHA:2388
Renal Tubular Dysgenesis	Renotubular dysgenesis, Anuria, Hypotension, Oligohydramnios, Pulmonary hypoplasia, Abnormality o...	OMIM:267430
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Melena, Furrowed tongue, Erythematous oral mucosa, Recurre...	OMIM:158310
Nijmegen Breakage Syndrome	Retrognathia, Anal stenosis, Anorectal anomaly, Non-midline cleft of the upper lip, Pollakisuria,...	ORPHA:647
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cerebellar atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Microg...	OMIM:301108
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Patent foramen ovale, Cerebellar atrophy, Hydronephrosis, ...	OMIM:620327
Trichothiodystrophy	Retrognathia, High, narrow palate, Clubbing, Cardiomyopathy, Thoracic kyphosis, Recurrent broncho...	ORPHA:33364
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Clubbing, Hamartomatous polyposis, A...	OMIM:175050
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Bifid uvula, Umbilical hernia, Long philtrum, Cerebellar vermis hypoplasia, Recurrent...	OMIM:620330
Bor Syndrome	Retrognathia, Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic...	ORPHA:107
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Delayed puberty, Atrial septal defect, Hypospadias, Aortic root aneurysm, Cerebellar atrophy, Sho...	OMIM:618891
Popliteal Pterygium Syndrome	Spina bifida occulta, Cleft upper lip, Cutaneous finger syndactyly, Bifid uvula, Cleft palate, Fi...	OMIM:119500
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Proportionate short stature, Patent ductus arteriosus, Atrial septal defect...	OMIM:617044
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal...	ORPHA:2248
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Early Infantile Epileptic Encephalopathy	Short finger, Broad finger, Anteverted nares, Broad phalanx of the toes, Cerebellar atrophy, Uret...	ORPHA:1934
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Bulbous nose	ORPHA:93945
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, T...	ORPHA:2003
Watson Syndrome	Pulmonic stenosis, Pectus carinatum, Short stature	OMIM:193520
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Vesicoureteral reflux, Hypertension, Beta 2-microglobulinur...	ORPHA:97362
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Wide nose, Sandal gap, Dental crowding, Hyperlordosis, High palate, Narrow mouth, ...	OMIM:616078
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inferior cerebellar vermis hypoplasia, Recurrent lower respiratory tract infections, Gastroesopha...	OMIM:617913
Familial Visceral Myopathy	Aganglionic megacolon, Hydroureter, Narrow chest, Anteverted nares, Vesicoureteral reflux, Arachn...	ORPHA:2604
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Aspiration pneumonia, Hypoplasia of the maxilla, Ve...	ORPHA:99772
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Breech presentation, Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Retinal hem...	OMIM:614653
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Ectopic kidney, Dental crowding, Pectus carinatum, Everted lower lip vermilion, K...	ORPHA:3063
Cleidocranial Dysplasia 2	Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossif...	OMIM:620099
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Cerebellar vermis hypoplasia, Polyc...	OMIM:619562
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Hydroureter, Polyhydramnios, Microcolon, Intestinal ma...	ORPHA:2241
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Peroxisome Biogenesis Disorder 11A (Zellweger)	Anteverted nares, Depressed nasal bridge, Multiple renal cysts, Renal cyst	OMIM:614883
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
Faciocardiorenal Syndrome	Tricuspid valve prolapse, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Wide nasal bri...	ORPHA:1973
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Polycystic kidney dysplasia, Choanal atresia, Renal cyst, Portal hypertension, Intrauterine growt...	OMIM:610199
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Scoliosis, Accessory carpal bones, Vertebral s...	ORPHA:503
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palpebral edema, Predominantly lower limb lymphedema, Abnormality of the dentition, Nonimmune hyd...	OMIM:607823
Craniolenticulosutural Dysplasia	High iliac wing, Bifid uvula, Wide mouth, Long philtrum, Anteverted nares, Scoliosis, Short statu...	OMIM:607812
Cowden Syndrome	Abnormality of the kidney, Abnormal penis morphology, Colorectal polyposis, Scoliosis, High palat...	ORPHA:201
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
Mesomelia-Synostoses Syndrome	Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar deviation of the ...	OMIM:600383
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Micropenis, Short stature	OMIM:245800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Short long bone, Short metacarpal, Cupped ribs, Severe short statur...	ORPHA:85167
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Abnormal pulmonary interstitial morphology, Hypospadias, Recurrent respirat...	ORPHA:209905
Holoprosencephaly 1	Tessier cleft, Proboscis, Single ventricle, Median cleft palate, Short stature, Cerebellar hypopl...	OMIM:236100
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Hamartomatous stomach polyps, Rectal pol...	ORPHA:2929
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Short stature, Hypoplasia of the ...	OMIM:618325
Senior-Loken Syndrome 8	Polydactyly, Nephronophthisis, Vascular dilatation, Glomerular subepithelial immune-complex depos...	OMIM:616307
Somatomammotropinoma	Macrodactyly, Palpebral edema, Thick lower lip vermilion, Widely spaced teeth, Deep palmar crease...	ORPHA:314769
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal palate morphology, Tarsal synostosis, Hypospadias, Short t...	ORPHA:85199
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Cleft palate, Conotruncal defect	OMIM:243440
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Enlarged cerebellum, Abnormal palate morphology, Abnormality of canine, Widely spaced teeth, Clin...	ORPHA:477993
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Exaggerated cupid's bow, Depressed nasal ti...	OMIM:619306
Sotos Syndrome	Ureteral duplication, Pectus excavatum, Kyphosis, Agenesis of permanent teeth, Abnormal heart mor...	ORPHA:821
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Esophageal atresia, Unilateral renal agenesis, Intrauterine growth retardatio...	OMIM:614083
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Breech presentation, Postaxial polydactyly, Proximal renal tubular acidosis, Intrauterine growth ...	OMIM:615824
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Wide mouth, Symphalangism affecting the phalan...	ORPHA:2658
Monosomy 9P	Bilateral single transverse palmar creases, Proximal placement of thumb, Long philtrum, Hypospadi...	ORPHA:261112
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia, Polycystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:613095
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Tented philtrum, Hypospadias, Gastroesophageal reflux, Cerebellar vermis hypoplasia, Anteverted n...	ORPHA:495875
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Dysphagia, Tongue atrophy	OMIM:613435
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Wide nose, Delayed er...	OMIM:209885
Curry-Jones Syndrome	Finger syndactyly, Intestinal malrotation, Broad thumb, Foot polydactyly, Abnormality of thumb ph...	ORPHA:1553
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Premature birth, Wide mouth, M...	ORPHA:116
Stüve-Wiedemann Syndrome	Abnormal metaphysis morphology, Genu valgum, Sacral dimple, Smooth tongue, Scoliosis, Elbow flexi...	ORPHA:3206
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Delayed puberty, Anal fissure, Dysphagia, Glomerulonephritis, Carious teeth, Renal amyloidosis, U...	ORPHA:79408
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Pneumonia, Prolonged QT interval, Patent foramen ovale, Pericardial effusio...	ORPHA:26793
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Hypospadias, Renal cyst, Syndactyly	OMIM:605231
Joubert Syndrome 23	Polydactyly, Cerebellar dysplasia	OMIM:616490
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery, Abnormality of the kidney, Aganglionic megacolon	ORPHA:895
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Unilateral renal agenesis, Abnormal metacarpal morphology, Abnormality of th...	ORPHA:2673
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Microdontia, Malar flattening, Patent ductus arteriosus, Hypodontia...	OMIM:602482
Gabriele-De Vries Syndrome	Thick lower lip vermilion, Esophageal atresia, Oral-pharyngeal dysphagia, Sandal gap, Patent fora...	ORPHA:506358
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Cephalohematoma, Patent ductus arteriosus, Flared metaphysis, Sandwich appearance of vertebral bo...	OMIM:620558
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Dysgenesis of the cerebellar vermis, Hypospadias, Disproportionate short-lim...	OMIM:619479
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Scoliosis, Kyphosis, Abnormal cerebellum morphology, Hand muscle atrophy, ...	OMIM:211530
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Cerebellar atrophy, Wide nasal bridge	OMIM:618302
Charcot-Marie-Tooth Disease Type 1F	Abnormality of the hand, Proximal muscle weakness in upper limbs, Urinary incontinence, Distal up...	ORPHA:101085
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Stroke, Per...	OMIM:614022
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Ventr...	ORPHA:363618
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Single transverse palmar crease, Bulbous nose, Agenesis o...	OMIM:616788
Burning Mouth Syndrome	Smooth tongue, Tongue pain, Abnormality of taste sensation, Parageusia, Strawberry tongue, Abnorm...	ORPHA:353253
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes...	OMIM:619608
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Ventricular hypertrophy, Nephrolithiasis, Pulmonary arterial hypertension, Caesaria...	ORPHA:369929
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Vertebral compression fracture, Hypertension, Pulmona...	OMIM:230800
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal e...	ORPHA:199241
Unilateral Ocular Duplication	Polyhydramnios, Encephalocele, Midline facial cleft, Cleft palate, Median cleft upper lip	ORPHA:3374
Fanconi Anemia, Complementation Group C	Ectopic kidney, Duplicated collecting system, Intrauterine growth retardation, Anterior wedging o...	OMIM:227645
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormality of the vertebral column, Hypoplasia of the maxilla, Short stature, Malar flattening, ...	OMIM:109120
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri...	ORPHA:1880
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Cerebellar vermis hypoplasia, Myoglobinuria, Polycystic kidney...	ORPHA:157
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Short nose, Anteverted nares, Growth delay, Hypoplasia of teeth, Ventricular septal...	OMIM:234050
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Severe intrauterine growth retardation, Ascites, Agenesis of per...	OMIM:243800
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Hemolytic-uremic syndrome, Short philtrum, Short long bone, Downturned corners of m...	OMIM:301110
Oculoectodermal Syndrome	Patent ductus arteriosus, Giant cell granuloma of mandible, Lymphedema, Transient ischemic attack...	OMIM:600268
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Epispadias, Sacral dimple, Hypospadias, Encephalocele, Finger syndactyly, Depressed nasal ridge, ...	ORPHA:2211
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Fetal pyelectasis	OMIM:301058
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Polyhydramnios, Hydroureter, Fetal megacystis, Microcolon, Abnormal heart morphology, Hydronephro...	OMIM:619362
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Gastroesophageal reflux, Prominent nasal tip, 2-3 toe syndactyly, Scoliosis, Bilatera...	ORPHA:522077
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Gingival fibromatosis, Renal cell carcinoma,...	OMIM:613254
Cogan Syndrome	Vasculitis, Large vessel vasculitis, Aortic regurgitation	ORPHA:1467
Chand Syndrome	Hydroureter, Atelectasis, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral fr...	ORPHA:1401
X-Linked Agammaglobulinemia	Glossoptosis, Short stature, Abnormal lung morphology, Sinusitis, Recurrent pneumonia	ORPHA:47
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric...	ORPHA:555874
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri...	OMIM:126320
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the kidney, Short philtrum, Abnormality of the palmar creases, Mandibular prognath...	ORPHA:521445
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra...	OMIM:602522
Lelis Syndrome	Mandibular prognathia, Furrowed tongue, Carious teeth, Palmoplantar hyperkeratosis, Hypodontia	ORPHA:140936
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Tracheoesophageal fistula, Anal ...	ORPHA:2973
Neuroocular Syndrome	Retrognathia, Widely spaced teeth, Deep palmar crease, Short uvula, Clinodactyly of the 5th finge...	OMIM:619539
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip	OMIM:600776
Hypoglossia-Hypodactylia	Retrognathia, Adactyly, Narrow mouth, Split hand, Micrognathia, Microglossia, Aglossia	OMIM:103300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Polyhydramnios, Renal cortical cysts, Anteverted nares, Scoliosis, Vesicoureteral reflux, Pectus ...	OMIM:618548
Anemia, Congenital Dyserythropoietic, Type Ia	Mild postnatal growth retardation, Hydrops fetalis, Syndactyly	OMIM:224120
Microphthalmia, Syndromic 6	Polydactyly, Retrognathia, Abnormality of the hand, Inferior cerebellar vermis hypoplasia, Clinod...	OMIM:607932
Loeys-Dietz Syndrome	Orofacial cleft, Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Pectus carinatum, Sco...	ORPHA:60030
Pyknoachondrogenesis	Short iliac bones, Palpebral edema, Craniofacial hyperostosis, Abnormality of mouth shape, Abnorm...	ORPHA:3003
Lymphangioleiomyomatosis	Pneumothorax, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Emphysema, Atelectasis, Chy...	ORPHA:538
Von Hippel-Lindau Disease	Myocarditis, Elevated urinary catecholamine level, Stroke, Hypertension, Cardiomyopathy, Renal ce...	ORPHA:892
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect...	OMIM:620233
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hydrops fetalis, Hypercalciuria, Dehydration, 3-Methylglutaric aciduria, Complex org...	OMIM:557000
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney	OMIM:613464
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Elevated urinary c...	ORPHA:653
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Anosmia, Microdontia, Bifid uvula, Absent thumb, Dysphagia, Syndactyl...	ORPHA:2363
Proboscis Lateralis	Orofacial cleft, Abnormal ethmoid bone morphology, Agenesis of canine, Single naris, Unilateral r...	ORPHA:141099
Pmm2-Cdg	Kyphoscoliosis, Retrognathia, Pericarditis, Wide mouth, Multiple renal cysts, Long philtrum, Anas...	ORPHA:79318
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux	OMIM:619881
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine	ORPHA:51208
Frontofacionasal Dysplasia	Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Abnormal rectum morphology, Severe short stature, Mitral valve prolapse, Abnormalit...	ORPHA:2556
Bdv Syndrome	Delayed puberty, Atrial septal defect, Micrognathia, Micropenis	OMIM:619326
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Proteinuria, Atrial septal...	OMIM:619471
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Hyperinsulinemic Hypoglycemia, Familial, 8	Growth delay, Atrial septal defect, Short stature	OMIM:620211
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Gaucher Disease, Type Ii	Gastroesophageal reflux, Bronchiolitis, Double aortic arch, Recurrent aspiration pneumonia, Dysph...	OMIM:230900
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Steatorrhea, Renal cyst, Dark urine, Fat malabsorption	ORPHA:79303
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Urogenital sinus anomaly, Hypoplastic l...	OMIM:618901
Joubert Syndrome 40	Postaxial polydactyly, Depressed nasal bridge	OMIM:619582
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Hammertoe, Tongue fasciculations, Scoliosis, Cerebellar atrophy, ...	ORPHA:99949
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Tuberous Sclerosis Complex	Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Polycystic kidney dysplasia, Hyp...	ORPHA:805
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Furrowed tongue, Underdeveloped nasal alae, Low hanging columella	OMIM:301845
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per...	OMIM:618775
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Severe short stature, Cherry red spot of ...	OMIM:256540
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thin vermilion border, Dilation of Virchow-Robin spaces, Clinodactyly of the 2nd finger, Hypocalc...	ORPHA:73223
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Cerebellar vermis hypoplasia, Short stature, ...	OMIM:620024
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Congestive heart failure, Dilatation of the cerebral artery, Medial calcificatio...	ORPHA:391487
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Wide nasal bridge, Depressed nasal bridge	OMIM:167730
Leigh Syndrome	3-Methylglutaconic aciduria, Congestive heart failure, Generalized aminoaciduria, Renal tubular a...	ORPHA:506
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Campomelia, Cumming Type	Polycystic kidney dysplasia, Lymphedema, Bowing of the long bones, Short stature, Pancreatic cysts	OMIM:211890
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C...	ORPHA:480536
Microsporidiosis	Myocarditis, Urethritis, Abnormality of the urinary system physiology, Glossitis, Bronchitis, Deh...	ORPHA:2552
Atelosteogenesis Type Iii	Short tubular bones of the hand, Abnormal cervical curvature, Thoracic hypoplasia, Absent radius,...	ORPHA:56305
Crouzon Syndrome	Deviated nasal septum, Dental crowding, Mandibular prognathia, High palate, Hypoplasia of the max...	OMIM:123500
Holoprosencephaly 4	Median cleft palate, Depressed nasal tip, Absent nasal septal cartilage, Median cleft upper lip, ...	OMIM:142946
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Umbilical hernia, Long philtrum, Overlapping toe, Short ...	OMIM:618332
Melkersson-Rosenthal Syndrome	Cheilitis, Furrowed tongue, Periorbital edema, Edema, Oligosacchariduria, Macroglossia	ORPHA:2483
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p...	OMIM:610978
Niemann-Pick Disease Type C	Hydrops fetalis, Foam cells, Cerebellar vermis atrophy, Bone-marrow foam cells, Ascites, Aspirati...	ORPHA:646
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Kyphoscoliosis, Decreased fetal movement, Polyhydramnios, Cleft soft palate, Tricuspid regurgitat...	OMIM:614557
Alkaptonuria	Abnormality of the nose, Coronary artery calcification, Atherosclerosis, Intervertebral disk calc...	ORPHA:56
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Hartnup Disease	Glossitis, Gingivitis, Short stature, Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Amniotic constriction ring, Cleft palate, Lip pit	ORPHA:1072
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Growth delay, Premature birth, Microretrognathia, Multiple pulmonary cysts, Ventricu...	OMIM:619418
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Peripheral edema, Reduced left ventricular ejection fraction, Abn...	ORPHA:1677
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Loss of Purkinje cells in the cerebellar vermis, Dysphagia, Tongue atrophy	ORPHA:276198
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Dysphagia, Tongue atrophy	OMIM:614153
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Nephrolithiasis, Pulmonary arteria...	OMIM:615474
Hypohidrotic Ectodermal Dysplasia	Anteverted nares, Abnormality of the dentition, Tooth agenesis, Abnormal dental morphology, Nephr...	ORPHA:238468
Rhyns Syndrome	Nephronophthisis, Short long bone, Short stature, Radial bowing, Short femoral neck, Chronic kidn...	OMIM:602152
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypertension, Dysphagia, Left ventricular hypertrophy, Bicuspid aortic valve, Bilateral superior ...	OMIM:220111
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Wide nose, Delayed eruption of teeth, Dental crowding, Mandib...	OMIM:614188
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Single transverse palmar crease, ...	OMIM:614947
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia	ORPHA:2221
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma...	ORPHA:158668
Hepatoerythropoietic Porphyria	Erythrodontia, Red urine, Purple urine, Red-brown urine, Abnormality of the amniotic fluid, Incre...	ORPHA:95159
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Plummer-Vinson Syndrome	Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Dysphagia, Tong...	ORPHA:54028
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Hyp...	ORPHA:93108
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Scoliosis, Atrial septal defect, Arterial rupture, Short stature	OMIM:619115
Peroxisome Biogenesis Disorder 4A (Zellweger)	Depressed nasal bridge, Renal cyst, Epiphyseal stippling	OMIM:614862
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Mandibular pain, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Neph...	ORPHA:99880
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hypertension, Hepatic cysts, Dilatation of the cerebral artery	OMIM:600666
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Gastrointestinal hemorrhage, Nail bed telangiectasia, Dilatat...	OMIM:187300
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Parathyroid Carcinoma	Peptic ulcer, Mandibular pain, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Neph...	ORPHA:143
Septooptic Dysplasia	Polydactyly, Short finger, Short stature	OMIM:182230
Ablepharon Macrostomia Syndrome	Thin vermilion border, Hypoplasia of penis, Anteverted nares, Underdeveloped nasal alae, Microdon...	ORPHA:920
Liver Disease, Severe Congenital	Left atrial enlargement, Narrow nasal ridge, Ascites, Umbilical hernia, Intrauterine growth retar...	OMIM:619991
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Geographic tongue, Renal insufficiency, Pedal edema	ORPHA:247353
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Prolonged QRS complex, Cardio...	ORPHA:75565
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Severe postnatal growth retardation, Depressed nasal t...	ORPHA:2399
Congenital Erythropoietic Porphyria	Erythrodontia, Increased urinary porphobilinogen, Increased fecal coproporphyrin 1, Purple urine,...	ORPHA:79277
Phace Association	Vascular dilatation, Aortic aneurysm, Dandy-Walker malformation, Coarctation of aorta, Arterial s...	OMIM:606519
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Combined Immunodeficiency-Enteropathy Spectrum	Gastrointestinal atresia, Polyhydramnios, Rectal abscess, Intestinal malrotation, Congenital pulm...	ORPHA:436252
Epidermal Nevus Syndrome	Aortic aneurysm, Polycystic kidney dysplasia, Thoracolumbar scoliosis, Spinal canal stenosis, Wea...	ORPHA:35125
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Pleural effusion, Ascites	OMIM:617049
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Long nose, Scoliosis, Depressed nasal bridge, Atrial septal defect, Underdeveloped ...	ORPHA:457351
Senior-Boichis Syndrome	Tubular luminal dilatation, Esophageal varix, Hypertension, Ascites, Portal hypertension, Abnorma...	ORPHA:84081
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Proximal muscle weakness in upper limbs, Difficulty in tongue movements, Distal u...	ORPHA:99956
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Postnatal growth retardation, Chalazion, Patent ductus arteriosus, Talipes equinovarus, Scoliosis...	OMIM:613355
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Growth delay, Atrial septal defect, Macroglossia, Short stature	ORPHA:93947
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal upper limb amyotrophy, Joint contracture of the hand, Proximal muscle weakness in upper ...	ORPHA:466768
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Craniofacial hyperostosis, Interrupted aortic arch, Abnormal aortic mor...	ORPHA:2396
Plague	Hematemesis, Tachycardia, Glossitis, Abnormality of the elbow, Acute infectious pneumonia, Hypote...	ORPHA:707
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Arteriovenous malformat...	ORPHA:774
Beckwith-Wiedemann Syndrome	Enlarged kidney, Cardiomegaly, Renal cortical cysts, Placental mesenchymal dysplasia, Dandy-Walke...	OMIM:130650
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventricul...	OMIM:618748
Bardet-Biedl Syndrome 12	Polydactyly, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Postaxial foot polydactyly,...	OMIM:615989
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Ventricular septal defect	OMIM:619908
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Glossitis, Recurrent urinary tract infections, Recurrent resp...	ORPHA:90045
Carney Complex	Esophageal neoplasm, Neoplasm of the stomach, Abnormal hard palate morphology, Paranasal sinus ne...	ORPHA:1359
Primrose Syndrome	Delayed puberty, Pectus excavatum, Kyphosis, Short distal phalanx of finger, Increased size of th...	OMIM:259050
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Tibial bowing, Ky...	OMIM:259770
Peroxisome Biogenesis Disorder 1B	Epiphyseal stippling, Hyperoxaluria, Renal cyst, Convex nasal ridge, Wide nasal bridge	OMIM:601539
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:266200
Choanal Atresia	Polydactyly, Recurrent respiratory infections, Nasal congestion, Chronic sinusitis	ORPHA:137914
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hypertension, Hepatic cysts, S...	OMIM:618061
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Mandibular prognathia, Ren...	ORPHA:93111
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect, Hypospadias	OMIM:612528
Hughes-Stovin Syndrome	Pulmonary artery aneurysm, Vasculitis, Pulmonary arterial hypertension, Arterial stenosis, Pulmon...	ORPHA:228116
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Anteverted nares, Gingival overgrowth, Open mouth	OMIM:620423
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Chylothorax, Anteverted nares, Lymphedema, Pleural effusion, Severe short stature, Thi...	ORPHA:2526
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate	ORPHA:2736
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Delayed puberty, Pituitary dwarfism, Hypotension, Depressed nasal ridge, Abnormal di...	ORPHA:95494
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Imerslund-Gräsbeck Syndrome	Glossitis, Proteinuria, Angular cheilitis, Tachycardia	ORPHA:35858
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Aspartylglucosaminuria	Beaking of vertebral bodies, Thick lower lip vermilion, Spondylolysis, Spondylolisthesis, Antever...	OMIM:208400
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Palmoplantar hyperkeratosis, Hypodo...	OMIM:257980
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Duodenal polyposis	OMIM:617100
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short stature, Flared metaphy...	ORPHA:2502
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Mpdu1-Cdg	Renal cortical cysts, Thin vermilion border, Prominent frontal sinuses	ORPHA:79323
Acrodermatitis Enteropathica	Cheilitis, Glossitis, Furrowed tongue, Short stature, Abnormality of the tongue	ORPHA:37
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Intrauterine growth re...	ORPHA:552
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Everted lower ...	OMIM:305100
Amyotrophic Lateral Sclerosis	Dysphagia, Xerostomia, Tongue atrophy	ORPHA:803
Duodenal Atresia	Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia	ORPHA:1203
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Polyhydramnios, Intestina...	OMIM:155310
Hereditary Elliptocytosis	Postnatal growth retardation, Hydrops fetalis	ORPHA:288
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L...	OMIM:610655
Axial Osteomalacia	Renal cyst	OMIM:109130
Caroli Disease	Polycystic kidney dysplasia, Esophageal varix, Ascites, Portal hypertension, Cholangiocarcinoma	ORPHA:53035
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis,...	OMIM:619431
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
Joubert Syndrome 5	Occipital encephalocele, Nephronophthisis, Aplasia/Hypoplasia of the cerebellar vermis, Renal cor...	OMIM:610188
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi...	ORPHA:391665
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Hypertension, Renal cell carcinoma, Cere...	OMIM:193300
Orotic Aciduria	Oroticaciduria, Hematuria, Orotic acid crystalluria, Atrial septal defect, Ventricular septal defect	OMIM:258900
Diamond-Blackfan Anemia 4	Growth delay, Atrial septal defect, Short stature	OMIM:612527
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Growth delay, Enamel hypoplasia, Palmoplantar keratoderma, Oral mucosal blisters	ORPHA:79396
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Scoliosis, Ankyloglossia	OMIM:619352
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Thin vermilion border	OMIM:609180
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent lower respiratory tract infe...	OMIM:619774
Unilateral Polymicrogyria	Stroke, Pseudobulbar paralysis, Abnormal heart morphology, Epistaxis, Pulmonary arteriovenous mal...	ORPHA:268943
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, 11 pairs of ribs, Hydromyelia, Dandy-Walker malformation, C...	OMIM:615287
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Multiple glomerular cysts, Abn...	OMIM:137920
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Bulbous nose, Right atrial enlargement	OMIM:615219
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ...	OMIM:618733
Lipodystrophy, Familial Partial, Type 7	Polyuria, Short nose, Orthostatic hypotension, Narrow nasal ridge, Hypertension, Narrow mouth, Pl...	OMIM:606721
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Hypospadias, Short philtrum, Oligodontia, Anal atresia, Microdontia, Hypoplasia of...	OMIM:180500
Caroli Syndrome	Hematemesis, Abnormality of the kidney, Melena, Polycystic kidney dysplasia, Esophageal varix, Po...	ORPHA:480520
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:600740
Glucagonoma	Intestinal obstruction, Steatorrhea, Gastrointestinal hemorrhage, Stomatitis, Glossitis, Ascites,...	ORPHA:97280
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Short s...	ORPHA:261265
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening, Narrow nari...	OMIM:122880
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Microcolon, Prominent nasal bridge, Arrhythmia, Ileus, Wide nasal bridge, ...	ORPHA:163746
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Mednik Syndrome	Microcolon, Growth delay, Volvulus, Neonatal death, Jejunal atresia	OMIM:609313
Pachyonychia Congenita 3	Palmoplantar keratoderma, Furrowed tongue, Gingivitis, Oral leukoplakia, Palmar hyperkeratosis, C...	OMIM:615726
Retinitis Pigmentosa 74	Polydactyly, Abnormal renal morphology	OMIM:616562
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Micrognathia, Bifid uvula, Poorly formed metencephalon, Talipes equinovarus	OMIM:601374
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne...	OMIM:277000
Meconium Ileus	Meconium ileus, Microcolon	OMIM:614665
Monomelic Amyotrophy	Distal upper limb amyotrophy, Abnormality of the upper limb	ORPHA:65684

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 Cplane1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Cplane1.

No publications found that use IMPC mice or data for Cplane1.

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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
Cplane1^{tm55508(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cplane1^em1(IMPC)Tcp	Indel	Mice, Tissue
Cplane1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cplane1 MGI:1920942

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

Immunophenotyping

Immunophenotyping

X-ray

Human diseases caused by Cplane1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data