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Gene: Ift140 MGI:2146906

Gene Summary

Name:

intraflagellar transport 140

Synonyms:

Tce5, Wdtc2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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.

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

7 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Ift140^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

Ift140^{tm1a(KOMP)Wtsi}
HET, Female, WTSI

View all 71 images

Human diseases caused by Ift140 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 Ift140 (6 diseases)
Human diseases predicted to be associated with Ift140 (1705 diseases)

The table below shows human diseases associated to Ift140 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre...	ORPHA:730
Jeune Syndrome	Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho...	ORPHA:474
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg...	OMIM:266920
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Retinitis Pigmentosa 80	Cone-shaped epiphyses of the phalanges of the hand	OMIM:617781
Retinitis Pigmentosa	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:791

The table below shows human diseases predicted to be associated to Ift140 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb ...	ORPHA:294975
Genitopalatocardiac Syndrome	Cleft upper lip, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the g...	OMIM:231060
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia...	OMIM:613751
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte...	ORPHA:401935
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Renal agenesis, Abnormal lung lobation, Abno...	ORPHA:2516
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys...	OMIM:208530
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, E...	ORPHA:1106
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Short distal phalanx of finger, Truncus arteriosus, Ventricular septal...	OMIM:601355
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus...	OMIM:616589
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic v...	ORPHA:228190
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va...	OMIM:604381
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Low-set ears, Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal epi...	ORPHA:93267
ERI1-related disease	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Patellar dis...	OMIM:608739
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a...	OMIM:619657
Hypoglossia With Situs Inversus	Microglossia, Polysplenia, Situs inversus totalis, Narrow mouth, Hypodontia, Asplenia, High palate	OMIM:612776
Isolated Klippel-Feil Syndrome	Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricula...	ORPHA:2345
Carpenter Syndrome 1	Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow...	OMIM:201000
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Frontonasal Dysplasia 1	Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Hypoplasia of the maxilla,...	OMIM:136760
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Microphtha...	OMIM:109400
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Micrognathia, Mitral valve prolapse, Ventral hernia, Short neck, High palate, Hip dis...	OMIM:618000
Isolated Osteopoikilosis	Limitation of joint mobility, Abnormal pelvis bone ossification, Sclerosis of foot bone, Abnormal...	ORPHA:166119
Achondrogenesis Type 1B	Severe short stature, Narrow chest, Disproportionate short stature, Short thorax, Micromelia, Umb...	ORPHA:93298
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Intestinal malrotation, Abnormal lung lobation, L...	ORPHA:2166
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Ventricular septal def...	OMIM:616897
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Achondrogenesis Type 1A	Severe short stature, Narrow chest, Micromelia, Thickened nuchal skin fold, Umbilical hernia, Abn...	ORPHA:93299
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Smooth philtrum, Cleft palate, Truncus arteriosus	OMIM:611867
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Micrognathia...	OMIM:213980
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, High palate, Pectus carinatum, Short toe, Delayed skeletal maturation, Low-set, p...	ORPHA:1327
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ...	OMIM:217085
Primary Ciliary Dyskinesia	Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Pulm...	ORPHA:244
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Short neck, Short foot, Abnormal pinna morphology, Hypoplasia of t...	ORPHA:915
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Micrognathia, Ventricular septal defect, Atrial septal defect, Lon...	OMIM:608149
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c...	OMIM:605376
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge...	OMIM:305620
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis, Heterotaxy	OMIM:601086
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia...	OMIM:108720
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect...	OMIM:306955
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,...	OMIM:608154
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Finger syndactyly, Limited knee flexio...	ORPHA:93323
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Fibrochondrogenesis 1	Thin ribs, Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad l...	OMIM:228520
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Encephalocele, Talipe...	ORPHA:1865
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Micrognathia, Mitral valve p...	OMIM:182212
Achondrogenesis	Severe short stature, Narrow chest, Micromelia, Thickened nuchal skin fold, Umbilical hernia, Abn...	ORPHA:932
Melnick-Needles Syndrome	Craniofacial hyperostosis, Hearing impairment, Delayed cranial suture closure, Micrognathia, Bowi...	ORPHA:2484
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Large fleshy ears, Micrognathia, Congenital diaphragmatic hernia, Decreased skull o...	OMIM:263210
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Fetal ascites, Micromelia, Flared metaphysis, Advanc...	OMIM:215045
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal helix morphology, Bilateral single transverse palmar creases, Congenital diaphragmatic h...	ORPHA:1120
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Dysp...	OMIM:265000
Trisomy 13	Low-set ears, Abnormal helix morphology, Bilateral single transverse palmar creases, Anophthalmia...	ORPHA:3378
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Situs inversus totalis, Dextrocardia	OMIM:618948
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Triploidy	Narrow chest, Finger syndactyly, Intestinal malrotation, Low-set, posteriorly rotated ears, Intra...	ORPHA:3376
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:270100
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,...	ORPHA:2008
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Hearing impairment...	ORPHA:1826
Microcephaly-Micromelia Syndrome	Low-set ears, Short tibia, Micrognathia, Humeroradial synostosis, Neonatal death, Talipes equinov...	OMIM:251230
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Neonatal short-limb short stature, Micromelia, Umbilical hernia, ...	OMIM:600972
Martsolf Syndrome 1	Low-set ears, Micrognathia, Talipes equinovarus, Broad fingertip, Microphthalmia, Finger joint hy...	OMIM:212720
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar...	ORPHA:79345
Holzgreve Syndrome	Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Hand polydactyly, Clef...	OMIM:236110
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Talipes equinovarus, ...	ORPHA:2839
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Natal tooth, Neonatal death, Ventricular septal defect, Short...	OMIM:269860
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl...	OMIM:175700
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi...	ORPHA:90652
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota...	ORPHA:3426
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Czeizel-Losonci Syndrome	Micrognathia, 2-3 finger syndactyly, Thoracolumbar scoliosis, Dextrocardia, Thickened nuchal skin...	ORPHA:2437
Lethal Congenital Contracture Syndrome 10	Low-set ears, Overlapping fingers, Micrognathia, Ventricular septal defect, Talipes equinovarus, ...	OMIM:617022
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot...	OMIM:620642
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Renal insufficiency, Right aortic ...	OMIM:617478
Trisomy 1Q	Low-set ears, Abnormality of the outer ear, Toe syndactyly, Microretrognathia, Abnormal rib morph...	ORPHA:261344
Mosaic Trisomy 9	Low-set ears, Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Microg...	ORPHA:99776
Shprintzen-Goldberg Syndrome	Low-set ears, Elbow dislocation, Genu valgum, Micrognathia, Mitral regurgitation, Mitral valve pr...	ORPHA:2462
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Microphthalmia, Syndromic 9	Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplastic spleen, Patent duc...	OMIM:601186
Verheij Syndrome	Short 5th finger, Renal hypoplasia, Renal agenesis, Long philtrum, Clinodactyly, Truncus arterios...	OMIM:615583
Lujan-Fryns Syndrome	Low-set ears, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Joint hypermobili...	ORPHA:776
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At...	ORPHA:185
20P12.3 Microdeletion Syndrome	Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Malar flattening, Atrial septal defect,...	ORPHA:261295
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Atresia of the external auditory canal, ...	OMIM:146510
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Abnorma...	ORPHA:1166
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet...	ORPHA:210122
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Congenital diaphragm...	OMIM:615524
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs ...	OMIM:201170
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal clavicle morphology, Malar prominence, Abnormal hip bone morphology, Micro...	ORPHA:2522
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia,...	ORPHA:2710
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Clinodactyly of the 5th finge...	OMIM:619123
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ...	OMIM:156510
Heart Defects-Limb Shortening Syndrome	Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Abnormal tri...	ORPHA:1354
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricul...	ORPHA:508498
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Small hypothenar eminence, Inguinal hernia, Mitral valve prolapse,...	OMIM:211960
Neurofaciodigitorenal Syndrome	Low-set ears, Hypoplasia of the premaxilla, Atresia of the external auditory canal, Abnormal dist...	ORPHA:2673
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal...	ORPHA:2538
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Hypoplasia of the maxilla, Pre...	OMIM:252100
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar...	OMIM:166300
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Holoprosencephaly 9	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Anophthalmia, Bila...	OMIM:610829
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Mosaic Trisomy 20	Craniofacial asymmetry, Narrow chest, Clinodactyly, Retrognathia, Hearing impairment, Spinal cana...	ORPHA:1724
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Micrognathia, Mitral valve pr...	ORPHA:193
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Cardiomyopathy, Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion...	OMIM:616549
Aicardi Syndrome	Recurrent pneumonia, Block vertebrae, Postnatal growth retardation, Butterfly vertebrae, Prominen...	OMIM:304050
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Carious teeth, Vertebral wedging, Cardiac fibroma, Ri...	ORPHA:377
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Elbow dislocation, Ra...	OMIM:108721
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Meckel Syndrome, Type 8	Low-set ears, Narrow chest, Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Ta...	OMIM:613885
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiph...	ORPHA:90653
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Mi...	OMIM:259600
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Finger syndactyly, Hearing impairment, Congenital diaphragmatic her...	ORPHA:2092
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency, Polydactyly	OMIM:615987
Skraban-Deardorff Syndrome	Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Right aortic arch, Ventricula...	OMIM:617616
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Bilateral single ...	ORPHA:3033
Pycnodysostosis	Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ...	ORPHA:763
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Absent tragus, Conductive ...	ORPHA:79113
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete...	ORPHA:363417
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Ulnar deviation of finger, Hypoplasia of the maxilla, Umbilical hernia, Camp...	ORPHA:1101
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge...	OMIM:311895
Melnick-Needles Syndrome	Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, Genu valgum, Microg...	OMIM:309350
Distal Duplication 14Q	Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn...	ORPHA:1705
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Delayed skeletal maturation, Herniation of intervertebr...	OMIM:601216
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Cervi...	OMIM:214300
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Low-set ears, Secundum atrial septal defect, Retrognathia, Umbilical hernia, Oligodactyly, Recurr...	OMIM:619758
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Encephalocele, Microphthalmia, Anal atresia, Flat a...	OMIM:616300
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Narrow chest, Short 5th finger, Triangular shaped dist...	ORPHA:73230
Mulibrey Nanism	Microglossia, Dental malocclusion, Congestive heart failure, Ascites, Intrauterine growth retarda...	OMIM:253250
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Low-set ears, Small hand, Cupped ear, Prominent fingertip pads, Anteriorly p...	OMIM:612863
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Abnormal mitral valve morphology, Sensorineural hearing impairment, La...	ORPHA:192
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Mosaic Trisomy 1	Low-set ears, Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ven...	ORPHA:1692
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Achondrogenesis, Type Ii	Microretrognathia, Abnormally large globe, Disproportionate short-limb short stature, Edema, Broa...	OMIM:200610
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Low-set ears, He...	OMIM:114290
Meacham Syndrome	Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Congenital alveo...	OMIM:608978
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Ascites, Abnormal thorax morphology, Cardiomegaly, Hydrocep...	OMIM:269920
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Premature birth, Delayed skeletal maturation, Radioulnar syn...	ORPHA:3268
Microphthalmia With Limb Anomalies	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthal...	OMIM:206920
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, ...	ORPHA:3316
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Low-set ears, Joint dislocation, Edema, Short finger, Hypoplastic heart, Intrauterine ...	OMIM:312150
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, ...	OMIM:615993
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of rig...	ORPHA:99050
Van Maldergem Syndrome 2	Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac...	OMIM:615546
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Micrognathia, Tibial bowi...	ORPHA:3035
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Aplasia/Hypoplasia of the radius, Microretrognathia, Con...	ORPHA:1307
Distal Duplication 15Q	Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Joint stiffness, Arachnod...	ORPHA:1707
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Deviation of finger, Abnormal tricuspid valve morphology, Inguinal he...	ORPHA:2412
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Neon...	OMIM:265380
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Protruding ear, Talipes equinov...	ORPHA:85279
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe...	OMIM:608328
Lowry-Maclean Syndrome	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, M...	ORPHA:2409
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricu...	OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Narrow chest, Hypoplasia of the maxilla, Long palm, Pectus excavatum, High pala...	OMIM:300676
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth re...	OMIM:304120
Joubert Syndrome 18	Horseshoe kidney, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Renal cyst...	OMIM:614815
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Short neck, Short...	OMIM:305400
Sweeney-Cox Syndrome	Short distal phalanx of finger, Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, ...	OMIM:617746
Turnpenny-Fry Syndrome	Low-set ears, Small hand, Clinodactyly, Overlapping toe, Mitral valve prolapse, Atrial septal def...	OMIM:618371
Distal Deletion 19P	Hypoplasia of the maxilla, Keloids, Conductive hearing impairment, Umbilical hernia, Low-set, pos...	ORPHA:96129
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Sialidosis Type 2	Pectus carinatum, Hearing impairment, Umbilical hernia, Ascites, Inguinal hernia, Short thorax, S...	ORPHA:87876
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,...	OMIM:615996
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Postnatal growth retardation, Micrognathia, Broad phalanx, Bilateral coxa val...	ORPHA:439822
Trisomy 18	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Ventricular septal d...	ORPHA:3380
Shashi-Pena Syndrome	Low-set ears, Cupped ear, Retrognathia, Kyphosis, Intrauterine growth retardation, Cervical C2/C3...	OMIM:617190
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Premature birth, M...	ORPHA:1834
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe...	OMIM:618316
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High pa...	OMIM:170390
Aicardi Syndrome	Small hand, Block vertebrae, Intestinal polyposis, Butterfly vertebrae, Prominence of the premaxi...	ORPHA:50
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia o...	ORPHA:887
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, ...	OMIM:615982
Meier-Gorlin Syndrome 1	Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Elbow dislocation, Hearing im...	OMIM:224690
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger...	OMIM:235510
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Low-set ears, Joint dislocation, Edema, Short finger, Hypoplastic heart, Intrauterine ...	OMIM:253290
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Retrognathia, Muscular ventricular septal defect, Butterfly vertebrae, Submucous cl...	OMIM:619227
Van Maldergem Syndrome 1	Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ...	OMIM:601390
3C Syndrome	Aortic valve stenosis, Low-set ears, Finger syndactyly, Postnatal growth retardation, Micrognathi...	ORPHA:7
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Bowing of the l...	OMIM:249000
Acrodysostosis	Hearing impairment, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology...	ORPHA:950
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Elbow dislocation, Malar flattening, Talipes equinovarus, Phalangeal d...	ORPHA:85174
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe...	OMIM:277600
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, Moy...	OMIM:300845
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the vertebral bodies, ...	ORPHA:93262
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Micrognathia, Bowing of th...	ORPHA:628
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Camurati-Engelmann Disease, Type 2	Osteopenia, Lower limb pain, Hyperostosis, Mitral regurgitation, Hip contracture, Knee flexion co...	OMIM:606631
C Syndrome	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Ventricular...	OMIM:211750
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Patchy distortion of vertebrae, Verteb...	ORPHA:1248
Orofaciodigital Syndrome Xvii	High, narrow palate, Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of...	OMIM:617926
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Intrauterine growth retardation, Micrognathia, Nonimmune hydrops fetalis, Joint c...	OMIM:608540
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Hypoplastic scapulae, Bowing of the long bones, Short foot, Genu varum, Disproporti...	ORPHA:85166
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Overlapping toe, Large placenta, Flexion contracture of finger, Coa...	ORPHA:254528
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Conductive hearing impairment, Atresia of the external audito...	ORPHA:1393
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ...	OMIM:619142
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Coarctation of aorta, Right aortic arch	OMIM:140850
Myhre Syndrome	Craniofacial hyperostosis, Hearing impairment, Hypoplasia of the maxilla, Abnormal metaphysis mor...	ORPHA:2588
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Duane-Radial Ray Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ...	OMIM:607323
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge...	OMIM:253000
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly...	ORPHA:2091
Vacterl With Hydrocephalus	Abnormality of the outer ear, Micrognathia, Anophthalmia, Microphthalmia, Aqueductal stenosis, An...	ORPHA:3412
Fountain Syndrome	Facial edema, Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabe...	ORPHA:3219
Diabetic Embryopathy	Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi...	ORPHA:1926
Emanuel Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, D...	OMIM:609029
Chromosome 9P Deletion Syndrome	Low-set ears, Dermatoglyphic variants, Micrognathia, Ventricular septal defect, Short neck, Atria...	OMIM:158170
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Ventricular septal defect, Truncus arteriosus, 2-3 toe syndactyly, Mic...	OMIM:617516
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp...	OMIM:200600
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphad...	OMIM:614034
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Split hand, Camptodactyly, High palate, Abnormal pi...	OMIM:246560
Feingold Syndrome 1	Ventricular septal defect, Everted lower lip vermilion, High palate, Duodenal atresia, Patent duc...	OMIM:164280
Acalvaria	Abnormal lung lobation, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Omphalocele, Hol...	ORPHA:945
Aminopterin/Methotrexate Embryofetopathy	Mesomelia, Mandibular prognathia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of ...	ORPHA:1908
Chromosome 10Q26 Deletion Syndrome	Low-set ears, Toe syndactyly, Postnatal growth retardation, Micrognathia, Sensorineural hearing i...	OMIM:609625
Lateral Meningocele Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Short neck, High pa...	OMIM:130720
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Pierre Robin Syndrome	Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal...	OMIM:619902
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d...	OMIM:142900
Gm1 Gangliosidosis	Low-set ears, Aspiration pneumonia, Ventricular septal defect, Patent ductus arteriosus, Macrotia...	ORPHA:354
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger...	ORPHA:391474
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Narrow chest, Pulmonary hypoplasia, Thoracic hypoplasia, Micromel...	OMIM:617895
Acrodysostosis 1 With Or Without Hormone Resistance	Hearing impairment, Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis...	OMIM:101800
Holoprosencephaly 7	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral mi...	OMIM:610828
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Marfan Syndrome	Increased axial length of the globe, Micrognathia, Mitral regurgitation, Mitral valve prolapse, L...	ORPHA:558
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Ventricular septal defect, Sensorineural hearing impairment, Bi...	OMIM:607872
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of...	ORPHA:261330
Dysostosis, Stanescu Type	Macroglossia, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia...	ORPHA:1798
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Short distal phalanx of finger, Hypoplasia of the maxilla, Osteolysis	ORPHA:2776
Myhre Syndrome	Aortic valve stenosis, Low-set ears, Limitation of joint mobility, Clinodactyly, Hearing impairme...	OMIM:139210
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Renal hypoplasia/apl...	ORPHA:2473
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi...	OMIM:600920
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Hearing im...	OMIM:614261
Stormorken Syndrome	Howell-Jolly bodies, Stroke-like episode, Hematuria, Subarachnoid hemorrhage, Thrombocytopenia, A...	OMIM:185070
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Respiratory tract infection, 2-3 toe syndactyly, Long fingers, High pa...	OMIM:218000
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Recurrent upper respiratory tract infections, Hypoplasia of ...	ORPHA:293939
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Ventricular s...	OMIM:134780
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ankyloglossia, Brachydactyly, Micropenis, Asplenia, Hypopla...	OMIM:602361
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Ventricular sept...	OMIM:601357
Cerebrofaciothoracic Dysplasia	Narrow chest, Low-set, posteriorly rotated ears, Polyhydramnios, Vertebral segmentation defect, R...	ORPHA:1394
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F...	ORPHA:87
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Aplasia/Hypoplasia of the lungs, Coarse metaphyseal trabeculariza...	ORPHA:2635
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Ventric...	OMIM:620663
Bardet-Biedl Syndrome 11	Abnormality of the kidney, Polydactyly	OMIM:615988
Baller-Gerold Syndrome	Low-set ears, Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Micr...	OMIM:218600
Marfan Syndrome	Increased axial length of the globe, Premature osteoarthritis, Micrognathia, Reduced subcutaneous...	OMIM:154700
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Oligodactyly, Intrauterine growth retardation, Abnormality of the ha...	ORPHA:521308
Andersen-Tawil Syndrome	Low-set ears, Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes...	ORPHA:37553
Pseudotrisomy 13 Syndrome	Low-set ears, Postaxial foot polydactyly, 11 pairs of ribs, Median cleft palate, Complete atriove...	OMIM:264480
Tetrasomy 15Q26	Horseshoe kidney, Hydronephrosis, Arachnodactyly, Atrial septal defect, High palate, Camptodactyl...	OMIM:614846
Cleidocranial Dysplasia 2	Aplastic clavicle, Short distal phalanx of finger, Broad thumb, Hypoplasia of the maxilla, Hearin...	OMIM:620099
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Low-set ears, Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Broad hallux, Hearing imp...	ORPHA:481152
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Sh...	OMIM:263650
Hydrolethalus	Low-set ears, Bifid uvula, Micromelia, Retrognathia, Low-set, posteriorly rotated ears, Micrognat...	ORPHA:2189
Ehlers-Danlos Syndrome, Classic Type, 1	Cigarette-paper scars, Joint dislocation, Bruising susceptibility, Umbilical hernia, Bowel divert...	OMIM:130000
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the...	ORPHA:1529
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormality of the vertebral colu...	OMIM:109120
Emanuel Syndrome	Aortic valve stenosis, Tooth malposition, Ventricular septal defect, Atrial septal defect, Anal a...	ORPHA:96170
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the...	ORPHA:1540
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Clef...	OMIM:618529
Rubinstein-Taybi Syndrome 1	Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ...	OMIM:180849
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Anomalous origin of left cor...	ORPHA:2326
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:371428
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Flexio...	OMIM:601812
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Cervicomedullary schisis, Sensorineural hearin...	OMIM:118100
Lamb-Shaffer Syndrome	Thoracic kyphosis, Micrognathia, Mild postnatal growth retardation, Hip dysplasia, Scoliosis, Fus...	ORPHA:530983
Fanconi Anemia, Complementation Group I	Short 1st metacarpal, Absent thumb, Short thumb, Conductive hearing impairment, Intrauterine grow...	OMIM:609053
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma...	ORPHA:2662
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Everted lower lip vermilion, Atrial septal defect, A...	OMIM:249670
Codas Syndrome	Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Ventricular septal defect, Sensori...	OMIM:600373
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Charge Syndrome	Low-set ears, Postnatal growth retardation, Unilateral microphthalmos, Micrognathia, Anophthalmia...	OMIM:214800
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo...	OMIM:156530
Neu-Laxova Syndrome 2	Low-set ears, Toe syndactyly, Finger syndactyly, Edema, Intrauterine growth retardation, Microgna...	OMIM:616038
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu...	OMIM:617927
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Decreased sku...	ORPHA:1452
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Mitral regurgitation, Mitral va...	OMIM:601776
Osteoglophonic Dysplasia	Low-set ears, Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phal...	OMIM:166250
7Q31 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Prominent fingertip pads...	ORPHA:251061
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Hearing impairment, Genu valgu...	OMIM:143095
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ...	ORPHA:2369
Neonatal Marfan Syndrome	Low-set ears, Crumpled ear, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Arachnodac...	ORPHA:284979
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Gastroschisis, Ventricular septal defec...	ORPHA:2476
Fibrochondrogenesis	Low-set ears, Narrow chest, Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camp...	ORPHA:2021
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Short stature, Anal atresia, Abnormal sacrum morphology, S...	ORPHA:1436
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Joint contracture of the hand, Micrognathia, Abnormality of the abdominal wall, Duo...	OMIM:247200
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph...	ORPHA:397973
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Tetralogy of F...	OMIM:617159
Bardet-Biedl Syndrome 5	Micropenis, Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morpholog...	ORPHA:2204
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Recurrent upper respiratory tract infections, Hypoplasia of the m...	OMIM:300534
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Fryns Syndrome	Multicystic kidney dysplasia, Anal atresia, High palate, Hypospadias, Non-midline cleft of the up...	ORPHA:2059
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process,...	OMIM:253010
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Delaye...	ORPHA:794
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Short neck, Diaphysea...	ORPHA:175
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Vasculitis, Inflammation of the large intestine, Abnormal epiphysi...	ORPHA:324964
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Retrognathia, Radial deviation of the hand, Short tibia, Short toe, Pre...	ORPHA:2756
Blomstrand Lethal Chondrodysplasia	Low-set ears, Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protru...	ORPHA:50945
Hallermann-Streiff Syndrome	Thin ribs, Low-set ears, Natal tooth, Micrognathia, Telangiectasia, Microphthalmia, High palate, ...	OMIM:234100
Congenital Heart Block	Endocardial fibroelastosis, Patent ductus arteriosus, Third degree atrioventricular block, Pleura...	ORPHA:60041
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal peri...	ORPHA:1335
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif...	ORPHA:64754
3Mc Syndrome 1	Lambdoidal craniosynostosis, Caudal appendage, Hearing impairment, Postnatal growth retardation, ...	OMIM:257920
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um...	ORPHA:1488
Crouzon Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Multiple suture cra...	ORPHA:207
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Hypoplasia of the maxilla, Broad thumb, Micrognathia, Ventricular septal defect, Ar...	OMIM:309520
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Azoospermia, Abnorma...	ORPHA:1445
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Hip subluxation, Short thumb, Horseshoe kidney, Overl...	ORPHA:221120
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Decreased fetal movement, Prominence of the premaxilla, Double...	OMIM:614886
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kidney, Abnormal...	OMIM:301111
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F...	ORPHA:1727
Melorheostosis	Atypical scarring of skin, Lymphedema, Joint stiffness, Ectopic ossification in muscle tissue, Hy...	ORPHA:2485
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impairment, Stenosis of t...	OMIM:616367
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ...	OMIM:268310
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s...	OMIM:190685
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Thoracic hypoplasia, Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops f...	OMIM:613124
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Ventricular septal defect, Radioul...	ORPHA:2876
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Genu valg...	ORPHA:65759
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of F...	OMIM:610205
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Hypoplasia of the maxilla, Hydrocephalus	OMIM:618302
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Postnatal growth r...	ORPHA:3472
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Trisomy 20P	Finger syndactyly, Micrognathia, Abnormal antihelix morphology, Hernia, Short neck, Macrotia, Pre...	ORPHA:261318
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Prune Belly Syndrome	Multicystic kidney dysplasia, Abnormality of the ureter, Ventricular septal defect, Talipes equin...	ORPHA:2970
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Abnormal thorax morphology, Anophthalmia, Orbital encephalocele, Micr...	OMIM:164180
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Conductive hearing impairment, Small cervical vertebral...	OMIM:135100
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Retrognathia, Micrognathia, Nonimmune hydrops fetalis, Decreased ca...	OMIM:618265
Neu-Laxova Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic...	OMIM:256520
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Hip contracture, Sensorineural hearing impairment, Bicuspid aortic val...	OMIM:617137
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar...	ORPHA:449400
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Small hand, Natal tooth, Micrognathia, Ventricular septal defect, Sagit...	OMIM:145420
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,...	OMIM:300280
8Q22.1 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Limitation of joint mobility, Sandal gap, Finger syndact...	ORPHA:178303
Gm1 Gangliosidosis Type 1	Abnormal odontoid tissue morphology, Low-set ears, Hearing impairment, Aspiration pneumonia, Abno...	ORPHA:79255
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Fusion of midcervical facet joints, Widening of cervical spinal canal, Global sys...	OMIM:606842
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Delayed skeletal maturation, Wormian bones...	OMIM:614450
Donnai-Barrow Syndrome	Low-set ears, Hearing impairment, Umbilical hernia, Intestinal malrotation, Hypoplasia of the iri...	OMIM:222448
Cerebrofacioarticular Syndrome	Osteopenia, Anal stenosis, Hypoplasia of the maxilla, Caudal appendage, Conductive hearing impair...	ORPHA:314679
Alg9-Cdg	Low-set ears, Large fleshy ears, Delayed cranial suture closure, Micrognathia, Ventricular septal...	ORPHA:79328
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysi...	OMIM:618363
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Umbilical hernia, Lymphedema, Ascites, Abnormal hip...	ORPHA:584
Kbg Syndrome	Bilateral conductive hearing impairment, Finger clinodactyly, Cervical ribs, Macrotia, Delayed sk...	ORPHA:2332
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephro...	OMIM:613390
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Mitral ...	OMIM:157800
Jawad Syndrome	Retrognathia, Thoracic scoliosis, Postaxial polydactyly, 4-5 toe syndactyly, Hallux valgus, Absen...	OMIM:251255
Geroderma Osteodysplasticum	Severe short stature, Platyspondyly, Hypoplasia of the maxilla, Osteopenia, Femoral bowing, Malar...	OMIM:231070
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of...	ORPHA:980
You-Hoover-Fong Syndrome	Vascular ring, Clinodactyly, Coarctation of aorta, Brachydactyly, Double aortic arch, Cleft palat...	OMIM:616954
Meckel Syndrome	Accessory spleen, Asplenia, Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hyp...	ORPHA:564
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Ventricular septal defect...	OMIM:620511
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Postaxi...	OMIM:607361
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Atresia of the external auditory canal, ...	ORPHA:672
22Q11.2 Deletion Syndrome	Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Ventricular septal defect, Arachno...	ORPHA:567
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Low-set ears, Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of ton...	OMIM:616546
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Abnormal helix morphology, Toe syndactyly, Micrognathia, Abnormal antihelix morphol...	ORPHA:261337
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov...	OMIM:618142
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Anophthalmia Plus Syndrome	Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rotated ears, Anoph...	ORPHA:1104
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Conductive h...	ORPHA:306542
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars...	OMIM:618469
Fetal Akinesia Deformation Sequence 1	Thin ribs, Low-set ears, Micrognathia, Hip contracture, Talipes equinovarus, Short neck, Elbow an...	OMIM:208150
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Hearing impairment, Abnormal tibia morphology, Genu ...	ORPHA:1328
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Renal insufficiency, Renal hypoplasi...	ORPHA:971
Split-Hand/Foot Malformation 1	Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala...	OMIM:183600
Diaphanospondylodysostosis	Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm...	ORPHA:66637
Split hand/foot malformation 1 (SHFM1)	Abnormality of the urinary system, Toe syndactyly, Cutaneous finger syndactyly, Split foot, Media...	DECIPHER:46
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Ventricular septal def...	OMIM:616894
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmat...	ORPHA:373
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de...	OMIM:600001
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Postnatal growth retardation, L...	ORPHA:254534
Monosomy 5P	Small hand, Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Intrauterine...	ORPHA:281
Donnai-Barrow Syndrome	Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:2143
Nail-Patella Syndrome	Patellar aplasia, Sensorineural hearing impairment, Talipes equinovarus, Disproportionate promine...	OMIM:161200
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow...	OMIM:619110
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Short thorax, Arthrogryposis multiple...	OMIM:601809
Say Syndrome	Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Cystic renal dysplasia, Proxim...	OMIM:181180
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Small th...	OMIM:613458
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Neu-Laxova Syndrome	Osteomalacia, Micrognathia, Large hands, Macrotia, Osteopenia, Rickets, Submucous cleft hard pala...	ORPHA:2671
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Low-set, posteriorly rotated ears...	ORPHA:2311
Congenital Syphilis	Pneumonia, Periostitis, Hearing impairment, Hyperplasia of the maxilla, Intrauterine growth retar...	ORPHA:499009
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal...	ORPHA:3032
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Stage 5 chronic ...	OMIM:615994
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,...	ORPHA:2879
Feingold Syndrome Type 1	Toe syndactyly, Multiple muscular ventricular septal defects, Abnormality of the kidney, Anal atr...	ORPHA:391641
Meckel Syndrome, Type 2	Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th...	OMIM:603194
Meier-Gorlin Syndrome 4	Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Delayed skeletal mat...	OMIM:613804
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, High palate, Recurrent aspiration pneumonia, Cl...	OMIM:300484
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Hypo...	OMIM:253200
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of...	ORPHA:1110
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Abnormal lung lobation, Camptodactyly of finger...	ORPHA:2631
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Hearing impairment, Aplasia/Hyp...	ORPHA:84
Holoprosencephaly	Abnormal antihelix morphology, Encephalocele, Ventricular septal defect, Congenital diaphragmatic...	ORPHA:2162
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis	OMIM:614416
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplication of p...	OMIM:263630
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda...	ORPHA:261243
Mosaic Trisomy 14	Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Bilateral...	ORPHA:1703
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Short stature, Anal atresia, Mandibular prognathia, Macrotia	ORPHA:93950
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Neonatal death, Arachnodactyly, Bowi...	OMIM:614437
Developmental And Speech Delay Due To Sox5 Deficiency	Pectus carinatum, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Lumbar hyperlordo...	ORPHA:313892
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Renal cyst, Postaxial hand...	OMIM:611561
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co...	OMIM:151200
Distal Deletion 15Q	Multicystic kidney dysplasia, Small hand, Genu valgum, Bicuspid aortic valve, Talipes equinovarus...	ORPHA:1596
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Oligohydramnios, Ma...	ORPHA:2145
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo...	ORPHA:3104
Christian Syndrome	Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Anal atresia, Scoliosis, Short mi...	OMIM:309620
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dilatation of the cerebral artery, Renal cyst, Polycystic liver disease	OMIM:174050
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal heart valve morphology...	ORPHA:577
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate	OMIM:223200
Stickler Syndrome	Hearing impairment, Genu valgum, Micrognathia, Mitral valve prolapse, Sensorineural hearing impai...	ORPHA:828
Classical Ehlers-Danlos Syndrome	Mitral regurgitation, Mitral valve prolapse, Talipes equinovarus, Patellar dislocation, Dislocate...	ORPHA:287
Kyphomelic Dysplasia	Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Abnormal ...	ORPHA:1801
Fetal Encasement Syndrome	Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro...	OMIM:613630
Mucopolysaccharidosis Type 4	Carious teeth, Hearing impairment, Genu valgum, Bowing of the long bones, Hernia, Short neck, Pec...	ORPHA:582
Gm1-Gangliosidosis, Type I	Severe short stature, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat...	OMIM:230500
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Postnatal grow...	ORPHA:138
Frank-Ter Haar Syndrome	Genu recurvatum, Delayed eruption of teeth, Umbilical hernia, Camptodactyly of finger, Osteolysis...	ORPHA:137834
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Low-set ears, Micrognathia, Hip contracture, Short neck, Breech presentation, High pal...	OMIM:620369
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypoplasia of the maxilla, Hearing impairment, Umbilical hernia, Abnormal heart mo...	OMIM:601499
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Barrel-shaped c...	OMIM:178110
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndacty...	ORPHA:3082
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Bifid uvula, Postaxial foot polydactyly, Postaxial poly...	OMIM:614175
Miller-Dieker Syndrome	Omphalocele, Polyhydramnios, Clinodactyly of the 5th finger, Growth delay, Sacral dimple	ORPHA:531
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Low-set ears, Growth delay, Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 ...	OMIM:617333
Peters-Plus Syndrome	Low-set ears, Square pelvis bone, Hearing impairment, Postnatal growth retardation, Micrognathia,...	OMIM:261540
Iniencephaly	Low-set ears, Encephalocele, Congenital diaphragmatic hernia, Talipes equinovarus, Anal atresia, ...	ORPHA:63259
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap...	OMIM:613686
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho...	OMIM:166210
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Chromosome 17P13.1 Deletion Syndrome	Long hallux, Arachnodactyly, Short neck, High palate, Short foot, High, narrow palate, Knee flexi...	OMIM:613776
Cranioectodermal Dysplasia 2	Low-set ears, Clinodactyly, Micrognathia, Short neck, Atrial septal defect, High palate, Patent d...	OMIM:613610
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Increased nuchal transluce...	ORPHA:295
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, He...	ORPHA:245
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Retrognathia, Hearing impairment, Micrognathia, Malar flattening, Hydr...	OMIM:620157
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Mi...	OMIM:245600
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Cleft upper lip, Short ...	OMIM:600987
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Micrognathia, Talipes equinovarus, Radioulnar syno...	ORPHA:1988
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Short 5th finger, Short distal phalanx of fing...	OMIM:220500
Fryns Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Ventricular se...	OMIM:229850
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Small hand, Clinodactyly, Anteriorly placed anus, Aortic valve prol...	OMIM:619980
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ...	OMIM:609052
Zttk Syndrome	Low-set ears, Small hand, Ventricular septal defect, Breech presentation, Atrial septal defect, H...	OMIM:617140
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory canal, Tracheomala...	ORPHA:268249
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear...	ORPHA:3400
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Elbow dislocation, Hearing impairment, Atresia of the...	ORPHA:2554
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Clinodactyly, Elbow dislocation, Slender long bone, Hypo...	OMIM:613805
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hearing impairment, 11 pairs of ribs, Anophthalmia, Ventricular se...	ORPHA:77298
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:616730
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Meningocele, Fused cervical vertebrae, Short neck	ORPHA:3456
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Ventricular septal defect,...	OMIM:150250
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive h...	ORPHA:2095
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal...	ORPHA:392
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Low-set ears, Pulmonary hypoplasia, Coronal craniosynostosis, Retrognathia, Postnatal ...	ORPHA:83617
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Pectus carinat...	OMIM:263520
Bardet-Biedl Syndrome 7	Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Klippel-Trénaunay Syndrome	Cellulitis, Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Prolonged bleeding time, Cong...	ORPHA:90308
Meier-Gorlin Syndrome 3	Low-set ears, Micrognathia, Patellar aplasia, Aplasia/Hypoplasia of the patella, Talipes equinova...	OMIM:613803
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Premature birth, Postnatal growth retardation,...	ORPHA:254519
1P36 Deletion Syndrome	Delayed cranial suture closure, Sensorineural hearing impairment, Abnormal intestine morphology, ...	ORPHA:1606
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation, Hepatomegaly, Polycystic liver disease, Abnormality of...	ORPHA:2924
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr...	ORPHA:314588
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Short 5th finger, Low-set ears, Prominent fingertip pads, Retrognathia, Abno...	ORPHA:485405
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Pate...	OMIM:601927
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Horseshoe kidney, Ankyloglossia, Tetralogy o...	OMIM:174300
Jacobsen Syndrome	Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Finger syndactyly, Lon...	ORPHA:2308
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge...	ORPHA:93322
Caudal Duplication	Intestinal duplication, Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cor...	ORPHA:1756
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ...	ORPHA:958
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equinovarus...	OMIM:618845
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Pectus carinatum, Osteopenia, Broad thumb, Secundum atrial septal defect, Clinodactyly, Hyperplas...	OMIM:620194
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Conductive hearing impairment, Stenosis of the external auditory canal...	ORPHA:1513
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,...	OMIM:300106
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Anophthalmi...	OMIM:305600
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Patellar dislocation, Elbow dislocation, Abnormal form of the...	ORPHA:2916
Noonan Syndrome 2	Low-set ears, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic val...	OMIM:605275
Schisis Association	Micromelia, Encephalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Spina bifi...	ORPHA:63862
Aminopterin Syndrome Sine Aminopterin	Low-set ears, Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intraut...	OMIM:600325
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Conductive hearing imp...	OMIM:184460
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Sandal gap, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholog...	ORPHA:2180
Noonan Syndrome 3	Low-set ears, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, High palate...	OMIM:609942
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre...	ORPHA:730
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Pectus carinatum, Lumbar hyperlordosis, Asymmetry of the ears, Sensorineural hearin...	OMIM:617796
Malan Syndrome	Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Accelerated skeletal mat...	OMIM:614753
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Bronchiectasis	OMIM:244400
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C...	OMIM:249710
Contractural Arachnodactyly, Congenital	Crumpled ear, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defec...	OMIM:121050
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Waardenburg Syndrome Type 1	Hearing impairment, Congenital sensorineural hearing impairment, Aganglionic megacolon, Sprengel ...	ORPHA:894
Meckel Syndrome, Type 6	Hepatic fibrosis, Postaxial foot polydactyly, Cleft upper lip, Aplasia of the bladder, Horseshoe ...	OMIM:612284
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, He...	ORPHA:1507
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Hand clenching, Biventricular hypertrophy, Overlapping toe, Reduced subcutaneous ad...	OMIM:617402
Hypothyroidism, Congenital, Nongoitrous, 4	Umbilical hernia, Severe postnatal growth retardation, Omphalocele, Macroglossia, Wide anterior f...	OMIM:275100
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hypoplasia of the maxilla, Cupped ear, Lipomas of eyelids, Microphthalmia, Clinodac...	OMIM:167730
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Short hallux, Abnormality of the kidney, Dysplastic aortic valve, Clef...	ORPHA:508488
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Postaxial foot polydactyl...	OMIM:267010
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Lymphedema, Abnormally ossified vertebrae, Abnormal thorax morpholo...	ORPHA:1318
Neuraminidase Deficiency	Facial edema, Cardiomyopathy, Ascites, Epiphyseal stippling, Inguinal hernia, Sensorineural heari...	OMIM:256550
3P25.3 Microdeletion Syndrome	Abnormality of the outer ear, Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defe...	ORPHA:435638
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp...	ORPHA:1759
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal hemorrhage, Talipes equinovarus, Finger joint hypermobility, Cerebral edema, High palate,...	OMIM:620371
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Ventricular septal de...	OMIM:300166
Proteus Syndrome	Low-set ears, Rib exostoses, Pulmonary cyst, Carious teeth, Finger syndactyly, Exostosis of the e...	ORPHA:744
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Pulmo...	OMIM:619003
Hydrolethalus Syndrome 1	Low-set ears, Preaxial hand polydactyly, Upper limb undergrowth, Abnormal lung lobation, Intraute...	OMIM:236680
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Low-set ears, Retrognathia, Finger clinodactyly, Inguinal hernia, Supernumerary ribs, Patellar su...	ORPHA:2958
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineu...	ORPHA:3416
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Atresia of the external auditory canal, Micrognath...	ORPHA:199
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Short thumb, Cleft upper...	OMIM:612561
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Hypospadias, Situs inversus totalis, Renal dysplasia	OMIM:615985
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Amniotic ...	ORPHA:1486
Constricting Bands, Congenital	Abnormal rib cage morphology, Abnormal lung lobation, Encephalocele, Gastroschisis, Talipes equin...	OMIM:217100
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Kyphosis, Delayed skeletal maturation, Ascites, Villous atrophy, Fetal skin edema, ...	OMIM:608776
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio...	OMIM:618815
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Vascular dil...	OMIM:617056
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis	OMIM:614844
Cockayne Syndrome Type 2	Hearing impairment, Intrauterine growth retardation, Hypoplasia of the primary teeth, Anophthalmi...	ORPHA:90322
Acrofacial Dysostosis, Catania Type	Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Hypoplasia of the zygomatic bone...	ORPHA:1786
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Aglossia, Micrognathia, Malar flattening, At...	OMIM:241310
Aortic Aneurysm, Familial Thoracic 9	Mitral valve prolapse, Arachnodactyly, Aortic tortuosity, Ascending aortic dissection, Thoracic a...	OMIM:616166
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Hearing impairment, Aspiration pneumonia, Micrognathia...	ORPHA:444077
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona...	ORPHA:168549
Tarp Syndrome	Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Atrial septal defe...	OMIM:311900
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Low-set ears, Hydranencephaly, Limitation of joint mobility, Camptodactyly of finger, Abnormal pl...	ORPHA:2570
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Abnormal palate morpho...	ORPHA:3270
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis...	ORPHA:2097
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Low-set ears, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Decreased ...	OMIM:601163
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Cerebral berry aneurysm, Hepatic cysts, Mitral valve pr...	OMIM:173900
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Micrognathia, ...	ORPHA:2990
Lymphatic Malformation 6	Cellulitis, Prune belly, Hearing impairment, Micrognathia, Atrial septal defect, Periorbital edem...	OMIM:616843
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Low-set ears, Scoliosis, Hearing impairment, Umbilical hernia, Micr...	OMIM:618454
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Slender finger, Small hypothenar eminence, Cutaneous syndactyly...	ORPHA:2872
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Retrognathia, Hearing impairment, Atrioventricular canal defect, Postnatal growth r...	OMIM:613792
Orofaciodigital Syndrome Type 5	Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef...	ORPHA:2919
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Broad thumb, Intestinal malrotation, Abnormal aortic morphology, Bilatera...	ORPHA:2001
Proteus-Like Syndrome	Genu recurvatum, Bronchogenic cyst, Subcutaneous lipoma, Hyperostosis, Hydrocephalus, Communicati...	ORPHA:2969
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Renal dysplasia, Accessory oral frenu...	OMIM:277170
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi...	OMIM:132900
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Protruding ear, Hypoplasia of the maxilla	OMIM:618737
Meckel Syndrome 14	Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Micrognathia, Mitral regurgita...	OMIM:619879
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Hoxha-Aliu Syndrome	Low-set ears, Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial sep...	OMIM:620662
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Conductive hear...	OMIM:123500
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Omphalocele, Hydrocephalus, Cleft palate	OMIM:258320
Craniometadiaphyseal Dysplasia	Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum...	OMIM:269300
Opitz Gbbb Syndrome	Low-set ears, Natal tooth, Hearing impairment, Ankyloglossia, Micrognathia, Congenital diaphragma...	ORPHA:2745
Gaucher Disease, Perinatal Lethal	Low-set ears, Thoracic hypoplasia, Retrognathia, Premature birth, Ascites, Desquamation of skin s...	OMIM:608013
Aplasia Cutis Congenita	Toe syndactyly, Spinal dysraphism, Finger syndactyly, Abnormality of bone mineral density, Prolon...	ORPHA:1114
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Hearing impairment, Thoracic hemiv...	OMIM:619721
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Tetralogy of Fallot, Intrauterine gr...	OMIM:220210
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone...	OMIM:613091
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Smooth philtrum, Talipes...	ORPHA:261311
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Thakker-Donnai Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Communicating hydrocephalus, Congenital dia...	ORPHA:1780
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Cowden Syndrome 5	Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed...	OMIM:615108
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu valgum, Malar flattening, Maxi...	ORPHA:2972
Craniolenticulosutural Dysplasia	Narrow chest, Carious teeth, High iliac wing, Delayed eruption of teeth, Hypoplasia of the maxill...	ORPHA:50814
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Hearing impairment, Cortical sclerosis, D...	OMIM:122860
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear...	ORPHA:2399
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Fetal distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring of ri...	OMIM:612852
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Cupped ear, Short stature, Mandibular prognathia, Macrotia	ORPHA:93945
Mgat2-Cdg	Osteopenia, Prominent antihelix, Abnormal bleeding, Abnormal earlobe morphology, Abnormal heart m...	ORPHA:79329
Lateral Meningocele Syndrome	Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Ve...	ORPHA:2789
Suleiman-El-Hattab Syndrome	Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Patent foram...	OMIM:618950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Polydactyly, Hernia, Ventricular septal defect, Joint hypermobility, Hydrocephalus...	OMIM:602501
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Arrhythmia, High palate, Anterior open-bite malocclusion, Osteopenia, Short toe, De...	OMIM:617877
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Patent ductus arter...	ORPHA:2712
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:618348
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren...	OMIM:258860
Hajdu-Cheney Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect,...	ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Pectus carinatum, Low-set ears, Clinodactyly, Lymphedema, Genu valgum, Ingu...	OMIM:607131
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Decreased fetal movement, Joint hypermobility, Increased connec...	OMIM:255320
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Microphthalmia,...	OMIM:617925
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Short thorax, Abnormal sacrum morphology, Intrauterine growth retardation, ...	ORPHA:1797
Microphthalmia With Linear Skin Defects Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Congenital diaphragmatic hernia, M...	ORPHA:2556
Amish Lethal Microcephaly	Limitation of joint mobility, Micrognathia, Cleft soft palate, Decreased fetal movement, Decrease...	ORPHA:99742
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Cleft lip, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu...	OMIM:619343
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina...	OMIM:243150
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedic...	ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Short neck, Spina bifida, Uplifted earlobe, Broad palm, Posteriorly rotated ears	OMIM:620439
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Postnatal growth retardation, Ventricular...	OMIM:192350
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Platyspondyly, Abnormali...	ORPHA:163966
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Prune belly, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Sprengel anomaly, Tho...	OMIM:601389
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Low-set ears, Lambdoidal craniosynos...	OMIM:101400
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb...	ORPHA:52
Cleft Velum	Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Aspiratio...	ORPHA:99772
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Atresia of the external...	OMIM:154400
Cowden Syndrome 6	Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed...	OMIM:615109
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Disproportionate short-limb short stature, Micromelia, Low-set, posterior...	ORPHA:2772
Treacher-Collins Syndrome	Micrognathia, Encephalocele, Microphthalmia, Abnormality of the middle ear, High palate, Rectovag...	ORPHA:861
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Abnormality o...	ORPHA:1299
Glycogen Storage Disease Iv	Edema, Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, Talipes equinovaru...	OMIM:232500
Digeorge Syndrome	Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, Patent ductus arteriosus...	OMIM:188400
Rhyns Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Nephronophthisis, Small epiphyses, Abnormality of...	ORPHA:140976
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cys...	OMIM:216360
Pelger-Huet Anomaly	Abnormality of the dentition, Giant platelets, Short 3rd metacarpal, Upper limb undergrowth, Shor...	OMIM:169400
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
10Q22.3Q23.3 Microdeletion Syndrome	Low-set ears, Microretrognathia, Atrioventricular canal defect, Intestinal polyposis, Joint hyper...	ORPHA:276413
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Low-set, posteriorly rotated ears, Clinodactyly o...	ORPHA:2475
Alg3-Cdg	Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the d...	ORPHA:79321
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Dysplasia of...	ORPHA:536467
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Biventricular hypertrophy, Recurrent otitis media, Micrognathia...	OMIM:616462
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognat...	OMIM:216340
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Conductive hearing ...	ORPHA:199306
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri...	OMIM:616898
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Kyphosis, Sandal gap, Intestinal malrotation, Intrauterine growth retardation, Cli...	OMIM:617602
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Aortic valve stenosis, Abnormal cardiac ventricle morphology,...	ORPHA:2306
Renpenning Syndrome	High, narrow palate, Severe short stature, Growth delay, Macrotia, Joint stiffness, Clinodactyly ...	ORPHA:3242
Meckel Syndrome, Type 4	Ventricular septal defect, Bowing of the long bones, Renal cyst, Atrial septal defect, Postaxial ...	OMIM:611134
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Atrial septal defect, Vascular ring, Ventricular septal defect	OMIM:603387
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo...	OMIM:182250
Marden-Walker Syndrome	Low-set ears, Joint contracture of the hand, Postnatal growth retardation, Micrognathia, Arachnod...	OMIM:248700
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Micrognathia, Ventricular septal defect, Short neck, Atrial septa...	OMIM:105650
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis, Punctate palmar hyperkeratosis	OMIM:106400
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Abnormal epiphysis morphology, Delayed skeletal maturation, Intrauterine gr...	ORPHA:2643
Anauxetic Dysplasia 1	Aortic valve stenosis, Atlantoaxial dislocation, Barrel-shaped chest, Hip contracture, Short neck...	OMIM:607095
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, ...	OMIM:611209
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy...	OMIM:219730
Koolen-De Vries Syndrome	High, narrow palate, Kyphosis, Abnormal dental enamel morphology, Overfolded helix, Vertebral seg...	ORPHA:96169
Craniofacial Microsomia 1	Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit...	OMIM:164210
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal mitral valve morphology, Se...	ORPHA:217085
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Hennekam Syndrome	Low-set ears, Narrow chest, Chylothorax, Delayed eruption of teeth, Finger syndactyly, Camptodact...	ORPHA:2136
Developmental And Epileptic Encephalopathy 89	Low-set ears, Narrow chest, Microretrognathia, Asymmetry of the ears, Neonatal death, Talipes equ...	OMIM:619124
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Toe syndactyly, Broad thumb, Long philtrum, Ankyloglossia, Clinodactyly ...	ORPHA:250989
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Wide mouth, Narrow mouth, Thick vermilion border, ...	ORPHA:261290
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Robinow Syndrome	Low-set ears, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Ventricul...	ORPHA:97360
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Chops Syndrome	High, narrow palate, Hearing impairment, Tracheomalacia, Aspiration pneumonia, Patent foramen ova...	OMIM:616368
Weyers Ulnar Ray/Oligodactyly Syndrome	Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Hydro...	OMIM:602418
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Dilatation of the cerebral artery, Retinal arteriolar tortuosity, Renal insufficiency, Hematuria,...	OMIM:611773
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo...	ORPHA:2050
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ...	ORPHA:2414
Jeune Syndrome	Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho...	ORPHA:474
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Micrognathia, Mitral valve prolapse, Sensorine...	ORPHA:93932
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-l...	OMIM:259420
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ...	OMIM:618955
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall...	ORPHA:949
Wildervanck Syndrome	Abnormality of the outer ear, Hearing impairment, Fused cervical vertebrae	OMIM:314600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib ...	OMIM:277300
Alg8-Cdg	Low-set ears, Abnormality of subcutaneous fat tissue, Ascites, Intrauterine growth retardation, O...	ORPHA:79325
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal mitral valve morphology, Se...	ORPHA:217093
Fryns Microphthalmia Syndrome	Anophthalmia, Bilateral cleft palate, Microphthalmia, Neural tube defect, Macrotia	OMIM:600776
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Nuchal Bleb, Familial	Hydrops fetalis, Fetal cystic hygroma, Stillbirth	OMIM:257350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi...	OMIM:271640
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ...	OMIM:618280
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Elbow dislocation, Micrognathia, Mitral valve prolapse, Arachnodactyly, Ventral herni...	ORPHA:536532
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Polydactyly	OMIM:615397
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Myelopathy, Vertigo, Stiff neck, Syringomyelia, Areflexi...	ORPHA:268882
Marfanoid-Progeroid-Lipodystrophy Syndrome	Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Mitral valve prolapse, Arachnodac...	OMIM:616914
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum,...	ORPHA:261537
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Tricuspid regurgitation, Clinodactyly of the 5th fi...	ORPHA:228396
Omphalocele	Fetal ultrasound soft marker, Omphalocele, Premature birth	ORPHA:660
Frank-Ter Haar Syndrome	Low-set ears, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, Ventricular se...	OMIM:249420
Wolf-Hirschhorn Syndrome	Micrognathia, Ventricular septal defect, Sensorineural hearing impairment, Talipes equinovarus, R...	OMIM:194190
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, High palate, Patent du...	OMIM:612474
Sapho Syndrome	Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormality of the ...	ORPHA:793
Goldberg-Shprintzen Syndrome	Low-set ears, Aortic regurgitation, Small hand, Hypoplasia of the maxilla, Ventricular septal def...	OMIM:609460
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Absence of the sac...	OMIM:617660
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Abnormal palate morphology, Radioulnar syno...	ORPHA:921
Fraser Syndrome 1	Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal...	OMIM:219000
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory...	ORPHA:2052
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Sandal gap,...	OMIM:608156
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Pla...	OMIM:300863
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,...	OMIM:151210
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Fractures of the long bones, Hepatosplenomegaly, Abnormal pelvis bone morpho...	ORPHA:464329
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,...	ORPHA:2616
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Marshall Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum, Hypoplast...	ORPHA:560
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bo...	OMIM:255800
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Elsahy-Waters Syndrome	Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, H...	OMIM:211380
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Multicystic kidney dysplasia	ORPHA:2111
Thanatophoric Dysplasia, Type I	5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Short neck, Breech presentat...	OMIM:187600
Trigonocephaly 1	High, narrow palate, Lumbar hemivertebrae, Meckel diverticulum, Omphalocele, Metopic synostosis, ...	OMIM:190440
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear...	ORPHA:1131
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hand muscle atrophy, Ve...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hand muscle atrophy, Ve...	ORPHA:363958
Craniofacioskeletal Syndrome	Interrupted aortic arch, Small hand, Absent gallbladder, Ventricular septal defect, Hydronephrosi...	OMIM:300712
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent...	ORPHA:83451
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Tetralo...	ORPHA:3186
Joubert Syndrome 16	Renal cyst, Nephronophthisis, Polydactyly	OMIM:614465
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split foot, Split hand, Cleft palate	OMIM:183700
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Cowden Syndrome 1	Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed...	OMIM:158350
Microphthalmia/Coloboma 5	Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Arachnodactyly, Atrial septal defect, Hypoplasia of the maxilla...	ORPHA:500150
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Hip contracture,...	OMIM:193700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion	OMIM:619462
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Disproportionate short-limb short sta...	OMIM:259440
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Koolen-De Vries Syndrome	Ventricular septal defect, Narrow palm, Bicuspid aortic valve, Atrial septal defect, High palate,...	OMIM:610443
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling	OMIM:614870
Aortic Arch Interruption	Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ...	ORPHA:2299
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Palmoplantar...	OMIM:129400
Cerebrooculonasal Syndrome	Low-set ears, Conductive hearing impairment, Postnatal growth retardation, Encephalocele, Malar f...	OMIM:605627
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing o...	ORPHA:89936
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Intracranial hemorrhage, Decreased fetal movement, Neonatal de...	ORPHA:85212
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Angel-shaped phalanx, Narrow chest, Short distal phalanx of finger, Carious teeth, ...	OMIM:617102
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum ...	OMIM:601612
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Fibromuscular Dysplasia, Arterial	Stroke, Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection	OMIM:135580
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Thoracic hypoplasia, Radial bowing, Preaxial polydactyly, Intestinal malrotation, ...	OMIM:617866
Three M Syndrome 1	Postnatal growth retardation, Short neck, Hip dislocation, Short 5th finger, Joint dislocation, D...	OMIM:273750
Auriculocondylar Syndrome 2B	Question mark ear, Postnatal growth retardation, Micrognathia, Mandibular condyle hypoplasia, Abn...	OMIM:620458
Stickler Syndrome, Type I	Micrognathia, Mitral valve prolapse, Sensorineural hearing impairment, Arachnodactyly, Beaking of...	OMIM:108300
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Low-set ears, Delayed cranial suture closure, Micrognathia, High, narrow p...	ORPHA:2780
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Situs inversus...	ORPHA:991
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, Abnormal mandi...	ORPHA:2215
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Microretrognathia, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib ...	ORPHA:276422
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses...	OMIM:208500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Single transverse palmar crease, 2-3 toe syndactyly, Renal c...	OMIM:236500
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Nephrocalcinosis, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis...	OMIM:240300
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Genu valgum, Open mouth, ...	ORPHA:2152
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, B...	ORPHA:249
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Hypoplastic pelvis, Urethral atresia, Asplenia, Anal atresia, Pe...	OMIM:273395
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Absent radius, Short humerus, Hydronephrosis, Persistent left supe...	OMIM:314390
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Abnormal mitral valve morphology, Sensorineural hearing impairment,...	ORPHA:580
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo...	OMIM:619636
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Low-set ears, Ectrodactyly, Small placenta, Postnatal growth retardation, Intra...	ORPHA:397590
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def...	ORPHA:101028
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Diaphanospondylodysostosis	Low-set ears, Bell-shaped thorax, Micrognathia, Decreased skull ossification, Talipes equinovarus...	OMIM:608022
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Cole-Carpenter Syndrome 2	Thin ribs, Dentinogenesis imperfecta, Platyspondyly, Microretrognathia, Lambdoidal craniosynostos...	OMIM:616294
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Atrial septal defect, Hypospadias, Patent ductus a...	ORPHA:163979
Arthrogryposis, Distal, Type 12	Low-set ears, Ankle flexion contracture, Absent distal interphalangeal creases, Spinal rigidity, ...	OMIM:620545
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Downturned corners of mouth, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Poland Syndrome	Abnormality of the outer ear, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, E...	ORPHA:2911
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Long ...	OMIM:618494
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Clinodactyly, Short neck, Atrial septal defect, Broad fingertip, Cel...	ORPHA:2044
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Single transverse palmar crease, Coarctation of aorta, Atrial septal...	OMIM:615502
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology	ORPHA:2435
Lethal Kniest-Like Dysplasia	Low-set ears, Broad long bones, Talipes equinovarus, Short neck, Breech presentation, Atrial sept...	ORPHA:2347
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Arrhythmia, Purpura, Chronic otitis media...	ORPHA:906
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Prematur...	ORPHA:1208
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia of the d...	ORPHA:94066
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Micrognathia, Hip contracture...	ORPHA:800
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Broad toe,...	OMIM:609616
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Conductive hearing impairment, Abnormal heart morphology, Microgna...	ORPHA:261197
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Severe short stature, Dental malocclusion, Delayed...	OMIM:612921
Noonan Syndrome 13	Low-set ears, Clinodactyly, Recurrent otitis media, Overlapping toe, Micrognathia, Mitral regurgi...	OMIM:619087
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Open bite, Foot polydactyly, High palate, Tarsal...	ORPHA:2750
Hurler Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Endocardial fibro...	OMIM:607014
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Agenesis of permanent teeth, Persistence of primary t...	ORPHA:46627
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum,...	ORPHA:261552
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Abnormal helix morphology, Finger syndactyly, Short toe, Umbilical hernia, Tetralog...	ORPHA:1519
Farber Disease	Recurrent upper respiratory tract infections, Short toe, Abnormal sternum morphology, Short finge...	ORPHA:333
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fe...	OMIM:619433
Acitretin/Etretinate Embryopathy	Cupped ear, Abnormality of the calcaneus, Premature birth, Third degree atrioventricular block, A...	ORPHA:40366
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Narrow palate, Dental malocclusion, Hearing impairment, Clinodactyl...	OMIM:227330
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Vertebral hypoplasia, Butterfly vertebrae, Ano...	OMIM:206900
Pallister-Killian Syndrome	Aortic valve stenosis, Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, ...	OMIM:601803
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Fl...	OMIM:300232
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ossification, A...	OMIM:184250
Esophageal Atresia	Abnormal vertebral morphology, Clinodactyly, Hearing impairment, Esophagitis, Ventricular septal ...	ORPHA:1199
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Overfolded...	ORPHA:2759
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Downturned corners of mouth, Pulmonary valv...	ORPHA:1600
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Chronic bronchit...	OMIM:616629
Free Sialic Acid Storage Disease	Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Recurrent respiratory infections, ...	ORPHA:834
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Enterocolitis, Microphthalmia	OMIM:301108
Anencephaly 2	Median cleft palate, Anophthalmia, Anencephaly	OMIM:619452
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Thora...	OMIM:613848
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ...	OMIM:224300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hearing impairment, Hypoplastic iliac win...	OMIM:609945
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal h...	ORPHA:404440
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Tetralog...	ORPHA:3097
Meckel Syndrome, Type 9	Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth	OMIM:614209
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Br...	OMIM:252600
Cat Eye Syndrome	Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Atrial septal defect, ...	OMIM:115470
Gabriele-De Vries Syndrome	Low-set ears, Sandal gap, Intrauterine growth retardation, Micrognathia, Sydney crease, Malar fla...	ORPHA:506358
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelvis, Cholestasi...	OMIM:619534
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho...	ORPHA:555874
3Mc Syndrome 2	Abnormal vertebral morphology, Caudal appendage, Hearing impairment, Abnormality of the vertebral...	OMIM:265050
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Low-set ears, Delayed skeletal maturation, Abnormal heart valve morphology...	ORPHA:228410
Congenital Sialidosis Type 2	Low-set ears, Hearing impairment, Umbilical hernia, Abnormal heart morphology, Ascites, Abnormal ...	ORPHA:93400
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Occipital encephalocele, Twelfth rib hypoplasia, Micrognathia, Bell-shaped thorax, ...	ORPHA:397715
Spondylocostal Dysostosis 5	Severe short stature, Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Sy...	OMIM:122600
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Kyphosis, Hearing impairment,...	ORPHA:583
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasi...	OMIM:311200
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Delayed skeletal maturation, Postnatal growth retardation, Diastasis recti, Polydactyly, Protrudi...	ORPHA:231140
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Recon Progeroid Syndrome	Growth delay, Long thumb, Prominence of the premaxilla, Arachnodactyly, Attached earlobe, Joint h...	OMIM:620370
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Short nec...	OMIM:271665
Monosomy 9Q22.3	Low-set ears, Palmar pits, Delayed eruption of teeth, Abnormality of the vertebral column, Umbili...	ORPHA:77301
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Microretrognathia, Hearing impairment, Condu...	OMIM:616229
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Vesicouret...	ORPHA:2549
Joubert Syndrome 7	Nephronophthisis, Genu valgum, Stage 5 chronic kidney disease, Postaxial polydactyly, Renal cyst,...	OMIM:611560
Dyskeratosis Congenita	Hypoplasia of the maxilla, Carious teeth, Coarse metaphyseal trabecularization, Palmoplantar kera...	ORPHA:1775
Lymphedema-Distichiasis Syndrome	Cellulitis, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Mi...	OMIM:153400
Joubert Syndrome 14	Low-set ears, Growth delay, Encephalocele, Malar flattening, Ventricular septal defect, Postaxial...	OMIM:614424
Fragile X Syndrome	Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse, Joint hypermobility, Pectus ...	OMIM:300624
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Talipes equinovarus, Everted lower lip vermilio...	ORPHA:261494
Fraser Syndrome 3	Low-set ears, Short toe, Abnormal lung lobation, Ascites, Micrognathia, Oligohydramnios, Nonimmun...	OMIM:617667
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Congenital diaphragmatic hernia, Ven...	ORPHA:818
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Abnormal bleeding, Retrognathia, Intrauterine growth retarda...	OMIM:614576
Microcephaly With Cervical Spine Fusion Anomalies	Short stature, Spinal instability, Vertebral fusion, Spinal cord compression	OMIM:251250
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Mi...	OMIM:614524
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Broad distal phalanx of finger, Sandal gap, Micrognathia, Postaxial polydactyly, Hy...	OMIM:615761
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Sensorineural hearing impairment, Radioulnar synostosis, Limited pronation/s...	OMIM:616738
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Myelomeningocele, Congenital sensorineural hearing impairment, Supernume...	OMIM:193500
Birt-Hogg-Dube Syndrome 1	Spontaneous pneumothorax, Renal cyst, Multiple pulmonary cysts, Large intestinal polyposis, Renal...	OMIM:135150
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hearing impairment, Osteomalacia, Retinal hemorrhage, Sensorineural hear...	ORPHA:51608
Stuve-Wiedemann Syndrome 1	Thin ribs, Low-set ears, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowin...	OMIM:601559
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Okamoto Syndrome	Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Exaggerated median tongue furrow,...	ORPHA:2729
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarcta...	OMIM:600460
Cardiac-Valvular Ehlers-Danlos Syndrome	Severe conductive hearing impairment, Genu valgum, Mitral regurgitation, Mitral valve prolapse, T...	ORPHA:230851
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Intrauterine growt...	ORPHA:2167
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Cupped ear, Finger syndactyly, Hearing impairment, Atresia of the external audito...	ORPHA:264200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Thoracic hypoplasia, Hearing impairment, Fetal distress, Elbow flexion contracture, Micrognathia,...	OMIM:300868
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micrognathia, Bilateral single transverse palmar cr...	ORPHA:1308
Nephronophthisis 15	Nephronophthisis, Polydactyly	OMIM:614845
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Coronal craniosynos...	OMIM:614188
Hurler Syndrome	Abnormal vertebral morphology, Limitation of joint mobility, Hearing impairment, Endocardial fibr...	ORPHA:93473
Cardiospondylocarpofacial Syndrome	High, narrow palate, Severe short stature, Synostosis of carpal bones, Failure of eruption of per...	ORPHA:3238
Lymphatic Malformation 12	Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Inguinal hernia, Neonat...	OMIM:620014
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Genu ...	OMIM:619472
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cupped ear, Sandal gap, Retrognathia, Umbilical hernia, Micrognathia, Joint contracture of the 5t...	OMIM:618914
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Palmoplantar keratoderma, Atresia of the external auditory canal, Cond...	OMIM:106260
Hydrops Fetalis	Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,...	ORPHA:1041
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec...	ORPHA:45452
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Growth delay, Delayed skeletal maturation, Delayed cranial ...	ORPHA:93324
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger...	OMIM:244600
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Small hand, Disproportionate short stature, Delayed skeletal maturation, Abnormal heart valve mor...	ORPHA:2868
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormal heart morphology, Hepatic...	ORPHA:400
Heart And Brain Malformation Syndrome	Interrupted aortic arch, High, narrow palate, Hand clenching, Cleft lip, Thick lower lip vermilio...	OMIM:616920
Classic Multiminicore Myopathy	Microretrognathia, Right ventricular failure, Congestive heart failure, Multiple joint contractur...	ORPHA:324604
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Abnormality of the dentition, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Downturn...	OMIM:615398
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Delayed skeletal ...	ORPHA:1517
Transketolase Deficiency	Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ...	ORPHA:488618
Meier-Gorlin Syndrome 7	Narrow mouth, Ventricular septal defect, Urethral stricture, Aplasia/Hypoplasia of the patella, A...	OMIM:617063
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Perica...	ORPHA:163596
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Anal stenosis, Hearing impairment, Aplasia/Hypoplasia of the iris, Gro...	ORPHA:782
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Azoospermia, Mitral valve prolapse, Cubitus valgus, Short 4th metacarpal, Sh...	ORPHA:2183
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short long bone	OMIM:613819
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Postnatal growth retardation, Bell-shaped thorax, Cleft soft palate,...	OMIM:117650
Trisomy X	Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Atrial septal ...	ORPHA:3375
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormal lung lobation, Micrognathia, Polyhydramnios, Mi...	ORPHA:3301
Juberg-Hayward Syndrome	Severe short stature, Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly plac...	ORPHA:2319
Long-Olsen-Distelmaier Syndrome	Low-set ears, Premature rupture of membranes, Microspherophakia, Dilated cardiomyopathy, Secundum...	OMIM:620609
Cornelia De Lange Syndrome 1	Ventricular septal defect, High palate, Dislocated radial head, Ectopic kidney, Hypospadias, High...	OMIM:122470
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Downturned corners of mouth, Finger syn...	ORPHA:1001
Au-Kline Syndrome	Overlapping toe, Sensorineural hearing impairment, Breech presentation, Thoracolumbar scoliosis, ...	OMIM:616580
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ...	OMIM:617168
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Cockayne Syndrome Type 1	Foot joint contracture, Hearing impairment, Postnatal growth retardation, Hypoplasia of the prima...	ORPHA:90321
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Congenital diaphragmatic hernia,...	ORPHA:280
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi...	OMIM:151050
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormality of the outer ear, Scoliosis, Velopharyngeal insufficienc...	OMIM:182290
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita...	ORPHA:63260
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Overlappi...	ORPHA:798
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl...	OMIM:615986
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Elbow ankylosis,...	ORPHA:2658
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Low-set, posteriorly rotated ears, Micrognathia, Inguinal hernia, Bil...	ORPHA:3191
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Low-set ears, Abnormal vertebral morphology, Hearing impairment, Subluxati...	ORPHA:536471
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a...	OMIM:610168
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Hernia, Short ne...	ORPHA:264450
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Atrial septal defect, Everted lower lip vermilion, High pa...	OMIM:611174
Contractures-Developmental Delay-Pierre Robin Syndrome	Overlapping toe, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Thorac...	ORPHA:436003
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Protruding tongue, Macroglossia, Scoliosis	OMIM:105830
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Aspiration pneumonia, Genu valgum, Abnormal mitral...	ORPHA:581
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ...	OMIM:173800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Synostosis involving the 1st metacarpal, Talipes valgus, Tricuspid regurgita...	ORPHA:466791
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal...	OMIM:601808
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Tarsal syno...	ORPHA:3429
Gaucher Disease	Aortic valve calcification, Gingival bleeding, Hearing impairment, Increased bone mineral density...	ORPHA:355
Mucopolysaccharidosis Type 1	Hearing impairment, Sensorineural hearing impairment, Hernia, Chronic otitis media, Joint disloca...	ORPHA:579
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Pectus carinatum, Aortic regurgitation, Situs inversus totalis, Mitral valve pro...	OMIM:609008
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Clinodactyly, Talipes equinovarus, Atrial septal...	ORPHA:2886
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Short 5th finger, Cleft upper lip, Abnormal heart morphology, Narrow mouth, 2-3 to...	OMIM:239800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp...	ORPHA:353281
Cloacal Exstrophy	Intestinal duplication, Bladder exstrophy, Intestinal malrotation, Myelomeningocele, Abnormal tib...	ORPHA:93929
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Boudin-Mortier Syndrome	Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet finger, Pseudoepiphyses ...	OMIM:619543
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly	OMIM:605231
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, ...	ORPHA:95699
Holoprosencephaly 2	Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Malar fl...	OMIM:157170
Loeys-Dietz Syndrome 1	Low-set ears, Micrognathia, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Eosinop...	OMIM:609192
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the ...	ORPHA:1856
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Postnatal...	ORPHA:959
Walker-Warburg Syndrome	Low-set ears, Bifid uvula, Metatarsus valgus, Submucous cleft hard palate, Anophthalmia, Protrudi...	ORPHA:899
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal...	OMIM:613095
Alpha-Thalassemia	Generalized edema, Hyperplasia of the maxilla, Congestive heart failure, Malar prominence, Pleura...	ORPHA:846
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Abnormal tragus morphology, Postaxial hand polyd...	ORPHA:66625
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Intrauterine growth re...	OMIM:617021
Nestor-Guillermo Progeria Syndrome	Thin ribs, Micrognathia, Mitral regurgitation, Limited elbow movement, Right atrial enlargement, ...	OMIM:614008
Campomelia, Cumming Type	Polysplenia, Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic ...	OMIM:211890
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Abnormal clavicle morphology, Abnormal form of the vertebral bo...	ORPHA:2645
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Postnatal growth retardation, Micrognathi...	OMIM:618150
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Anophthalmia, Prominent ear helix	ORPHA:411986
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportiona...	ORPHA:239
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Disproportionate short stature, S...	OMIM:222765
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Sensorineural hearing impairment, Split hand	ORPHA:2440
Cat-Eye Syndrome	Hearing impairment, Abnormal rib morphology, Intrauterine growth retardation, Microphthalmia, Sho...	ORPHA:195
Pallister-Hall-Like Syndrome	Hip dislocation, Microglossia, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Median cle...	OMIM:241800
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Oculodentodigital Dysplasia	Carious teeth, Conductive hearing impairment, Clinodactyly, 3-4 toe syndactyly, Joint contracture...	OMIM:164200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect	OMIM:613730
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath...	OMIM:210710
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Barber-Say Syndrome	Low-set ears, Hypoplasia of the maxilla, Microtia, first degree, Dental malocclusion, Delayed eru...	OMIM:209885
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror...	ORPHA:2378
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg...	OMIM:266920
Mucopolysaccharidosis, Type Ii	Severe short stature, Recurrent pneumonia, Kyphosis, Delayed eruption of teeth, Intestinal pseudo...	OMIM:309900
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the zygomatic bone, Sho...	ORPHA:710
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Persistent open anterior fontanelle, Atrophic scars, Inguinal hernia, Patent foramen ovale, Mitra...	OMIM:615539
Chondrodysplasia Punctata 2, X-Linked Dominant	Hearing impairment, Postnatal growth retardation, Stippled calcification in carpal bones, Short n...	OMIM:302960
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Multicystic kidney dysplasia, Bilateral cleft palate, Bilateral cleft lip...	OMIM:618829
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, ...	OMIM:602579
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Combined Oxidative Phosphorylation Defect Type 27	Hearing impairment, Nonimmune hydrops fetalis	ORPHA:477774
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Low-set ears, Gingival bleeding, Postnatal growth retardation, Micrognathia, Premature rupture of...	OMIM:225410
Tetraploidy	Aplasia/Hypoplasia of the thymus, Radial club hand, Renal hypoplasia/aplasia, Hydronephrosis, Apl...	ORPHA:3305
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ...	OMIM:123000
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal...	ORPHA:2751
Antley-Bixler Syndrome	Narrow chest, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Low-set, posteriorly rot...	ORPHA:83
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Short palm, Short metacarpals with rounded ...	OMIM:231050
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Hearing impairment, ...	ORPHA:920
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Adducted thumb, Atrial septal defect, Rocker bottom foot, Hypoplastic spleen	ORPHA:89844
Mend Syndrome	Aortic valve stenosis, Low-set ears, Microretrognathia, Broad hallux, Overlapping fingers, Overla...	OMIM:300960
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp...	ORPHA:353277
Mosaic Trisomy 8	Limitation of joint mobility, Hearing impairment, Micrognathia, Patellar aplasia, Abnormal antihe...	ORPHA:96061
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teet...	OMIM:225500
Radio-Renal Syndrome	High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Downturned corner...	ORPHA:3015
Atelosteogenesis Type I	Pulmonary hypoplasia, Rhizomelia, Short femur, Talipes equinovarus, Limb undergrowth, Multiple re...	ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Semilobar holoprosencephaly, Xerostomia, Toe syndactyly, Recurrent res...	OMIM:129900
Familial Osteodysplasia, Anderson Type	Carious teeth, Elbow dislocation, Abnormal earlobe morphology, Aplasia/hypoplasia of the femur, M...	ORPHA:2769
Noonan Syndrome With Multiple Lentigines	Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing impairment, Arrhyt...	ORPHA:500
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Abnormal heart morphology, Postnatal growth retardation, Polydactyly,...	ORPHA:531151
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Low-set ears, Clinodactyly, Hearing impairment, Long hallux, Overlapping t...	OMIM:618164
Tetraamelia Syndrome 2	Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Bilateral cleft lip, Hypoplast...	OMIM:618021
Congenital Enterovirus Infection	Fetal ascites, Hypotension, Abnormal bleeding, Cardiomyopathy, Fetal distress, Pleural effusion, ...	ORPHA:292
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra...	OMIM:605282
Duane Retraction Syndrome	Hearing impairment, Micrognathia, Sensorineural hearing impairment, Talipes equinovarus, Aplasia/...	ORPHA:233
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Unilateral radial...	ORPHA:476126
Beckwith-Wiedemann Syndrome	Subchorionic septal cyst, Hearing impairment, Abnormal earlobe morphology, Large placenta, Congen...	ORPHA:116
Loeys-Dietz Syndrome 4	Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the es...	OMIM:614816
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Narrow chest, Disproportionate short-limb short stature, Abnormal pelvis bone ossification, Micro...	ORPHA:93271
Diamond-Blackfan Anemia	Low-set ears, Absent thumb, Abnormality of the thenar eminence, Short thumb, Growth delay, Abnorm...	ORPHA:124
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Sensorineural hearing imp...	OMIM:305450
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Arachnodactyly,...	ORPHA:536545
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Ascites, Lumbar hyperlordos...	ORPHA:2848
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, Anophthalmia, Senso...	OMIM:113620
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar...	OMIM:187601
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hype...	OMIM:617952
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Renal agenesis, Finger clinodactyly, Preaxial polydactyly,...	ORPHA:2754
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Hearing impairment, Recurrent joint dislocation, High palate, Abnormal ...	ORPHA:2953
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo...	OMIM:602196
Gaucher Disease Type 3	Aortic valve calcification, Delayed skeletal maturation, Osteolysis, Abnormal heart valve morphol...	ORPHA:77261
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, Nephronophthisis, 2-4 toe syndactyly, Rhizomelia, Sandal ga...	OMIM:614099
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Lumbar hemivertebrae, Thin metatarsal cortices, Small hypothenar eminence, Thin metaca...	ORPHA:2463
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Kyphoscoliosis...	OMIM:176920
Cardiofaciocutaneous Syndrome	Genu valgum, Short neck, Atrial septal defect, High palate, Macrotia, Palmoplantar keratoderma, L...	ORPHA:1340
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Ventricular septal defect, Renal cyst, Metaphyseal chondrodysplasia, Hallux val...	ORPHA:166035
Weismann-Netter Syndrome	Severe short stature, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hypero...	OMIM:112350
Mirage Syndrome	Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Leukopenia, ...	OMIM:617053
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Aplasia of ...	OMIM:617088
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventr...	ORPHA:251071
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
De Barsy Syndrome	Low-set ears, Postnatal growth retardation, Ventricular septal defect, Talipes equinovarus, Bilat...	ORPHA:2962
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Ellis Van Creveld Syndrome	Acute leukemia, Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Renal hypopla...	ORPHA:289
Phoar2-Enteropathy Syndrome	Knee pain, Hyperostosis, Clubbing, Periostosis	OMIM:614441
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Hypoplastic iliac wing, Micro...	OMIM:119600
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Mitral valve prolapse, Talipes equinovarus, Patellar dislocation, Thoracic kyphoscoliosis, Abnorm...	ORPHA:1900
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ...	OMIM:606003
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Intrauterin...	OMIM:244460
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Congenital diaphragmatic herni...	OMIM:312870
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Postnatal growth retardation, Microphthalmia, Hypoplastic inferior ilia, ...	OMIM:608940
Catel-Manzke Syndrome	Low-set ears, Ulnar deviation of the 2nd finger, Postnatal growth retardation, Genu valgum, Micro...	OMIM:616145
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Craniofacial hyperostosis, Tricuspid valve prolapse, Multiple lipomas, Lip...	ORPHA:2396
Limb-Mammary Syndrome	Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,...	OMIM:603543
Microphthalmia, Syndromic 1	Low-set ears, Joint contracture of the hand, Clinodactyly, Hearing impairment, Recurrent otitis m...	OMIM:309800
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Delayed skeletal maturation, Fetal distress, Bell-shaped thorax, Micrognathia, Inguinal hernia, H...	OMIM:614857
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Pulmonary hypoplasia, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, F...	OMIM:615503
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Ventricular septal defect, Cirrho...	OMIM:270400
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Increased mean corpuscular volume, Shor...	OMIM:612562
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar...	OMIM:613834
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Bicuspid aortic valve, Carotid a...	ORPHA:91387
Mosaic Trisomy 16	Short forearm, Meckel diverticulum, Clinodactyly, Anteriorly placed anus, Short femoral neck, Hor...	ORPHA:1708
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Sensorineural hearing impairment, Mi...	ORPHA:139471
Loeys-Dietz Syndrome 5	Cleft soft palate, Reduced subcutaneous adipose tissue, Mitral regurgitation, Ventricular septal ...	OMIM:615582
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Abnormality of the ureter, Bilateral single transverse palmar creases, Renal hypopla...	ORPHA:1770
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Multiple Epiphyseal Dysplasia Type 4	Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq...	ORPHA:93307
Leopard Syndrome 1	Low-set ears, Mitral valve prolapse, Limited elbow movement, Sensorineural hearing impairment, Sh...	OMIM:151100
Pseudoleprechaunism Syndrome, Patterson Type	Hyperplasia of the maxilla, Delayed skeletal maturation, Metaphyseal sclerosis, Genu valgum, Dela...	ORPHA:2976
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Sensorineural hearing...	OMIM:620167
2Q31.1 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Ventric...	ORPHA:251014
Marden-Walker Syndrome	Multicystic kidney dysplasia, Narrow mouth, Renal hypoplasia/aplasia, Ventricular septal defect, ...	ORPHA:2461
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ...	ORPHA:1782
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormality of the dentition, Small hand, Hip dislocation, Long philtrum, Hydronephr...	OMIM:300968
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Craniofacial hyperostosis, Limitation of joint mobility, Delayed skeletal matur...	ORPHA:3068
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Joint contracture of the hand, Abnormal heart morphology, Single transverse palmar...	OMIM:214110
Myoectodermal Gonadal Dysgenesis Syndrome	Low-set ears, Bifid distal phalanx of toe, Scoliosis, Delayed skeletal maturation, Cutaneous fing...	OMIM:618419
Costello Syndrome	Ulnar deviation of finger, Delayed skeletal maturation, Hypertrophic cardiomyopathy, Abnormal den...	ORPHA:3071
Otodental Syndrome	Otitis media with effusion, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of t...	ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Shoulder girdle muscle weakness, Vertebral fusion, Hyperlordosis, Achilles ten...	OMIM:606612
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Hydrocephal...	OMIM:313850
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
Phakomatosis Pigmentokeratotica	Lymphedema, Hemiatrophy, Hypophosphatemic rickets, Arrhythmia, Spina bifida, Raynaud phenomenon, ...	ORPHA:2874
Absent Radius-Anogenital Anomalies Syndrome	Ectrodactyly, Oligodactyly, Oligohydramnios, Perineal fistula, Hydrocephalus, Rectal atresia, Hyp...	ORPHA:3016
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Pectus carinatum, Recurrent pneumonia, Retrognathia, Furrowed tongue, Inguinal hern...	OMIM:616449
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Hearing impairment, Umbilical hernia, Joint stiffne...	OMIM:252900
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Oral ulcer, Neutropenia, Hepatomegaly...	OMIM:612541
Diffuse Neonatal Hemangiomatosis	Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth	ORPHA:2123
Mend Syndrome	Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Kyphosis, Broad hallux,...	ORPHA:401973
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali...	ORPHA:500095
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Delayed eruption of teeth, Hearing impairment, Growt...	ORPHA:667
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Rickets, Bulging of the costochondral junction, ...	OMIM:264700
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar...	OMIM:147891
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Maxillozygomatic hypoplasia, Atrial ...	ORPHA:1790
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Genu valgum, Mitral regurgitation, Sensorineural hearing impai...	ORPHA:309282
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bi...	ORPHA:64755
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia...	OMIM:250420
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Hepatomegaly, High palate, Macrovesicular hepatic steatosis, P...	OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Pectus carinatum, Prominent fingertip pads, Micrognathia, Mitral valve prolapse, Joint hypermobil...	OMIM:300986
Maternal Phenylketonuria	Hypoplastic left heart, Clinodactyly, Long philtrum, Abnormal heart morphology, Tetralogy of Fall...	ORPHA:2209
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Osteomalacia, Abnormal joint morphology, Esophagitis, Mic...	ORPHA:1901
Joubert Syndrome 27	Polydactyly, Dilatation of the renal pelvis, Thick lower lip vermilion	OMIM:617120
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral ...	ORPHA:2273
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Micrognathia, Congenital diaphragmatic hernia, Ar...	OMIM:208050
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Acrocephalopolydactylous Dysplasia	Low-set ears, Micromelia, Ascites, Hypoplastic colon, Short neck, Omphalocele, Postaxial hand pol...	OMIM:200995
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth	ORPHA:544254
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Overlapping toe, Overlapping fingers, Ventricular ...	ORPHA:464738
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Widely spaced teeth, Absent cupid's bow, Right aortic arch, Ventricu...	ORPHA:513456
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Ascites, Abnormal cardiomyocyte morphology, Por...	ORPHA:367
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recur...	OMIM:150230
Endocrine-Cerebroosteodysplasia	Low-set ears, Natal tooth, Fibular bowing, Micrognathia, Barrel-shaped chest, Talipes equinovarus...	OMIM:612651
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Clinodactyly, Lymphopenia, Vesicoureteral reflux, Tented upper lip vermilion, P...	OMIM:618460
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Dilated cardiomyopathy, Shoulder girdle muscle weakness, Hyperlordosis, Vertebral fusion, Achille...	OMIM:607155
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Upper lip pit, Renal agenesis, Tooth agenesis, Preaxial hand polyda...	ORPHA:1297
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Sandal gap, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel ...	ORPHA:1812
Hemochromatosis, Neonatal	Intrauterine growth retardation, Oligohydramnios, Abnormal bleeding, Nonimmune hydrops fetalis	OMIM:231100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiosteal bone formation	OMIM:211900
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi...	ORPHA:1923
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hearing impairment, Neonatal death, Atrial septal defect, Unilateral chest hypoplasia, Hip disloc...	OMIM:308205
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Recurrent pneumonia, Aspiration pneumonia, Abnormal heart morphology, Micrognathia,...	ORPHA:314655
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Mitral stenosis, Renal cyst, Coarctation of aorta, Smooth philtrum, Deep philtru...	OMIM:617260
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Long philtrum, Widely sp...	OMIM:617506
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Long hallux, Transient neutropenia, Thick vermilion border, Nephro...	OMIM:617107
Hajdu-Cheney Syndrome	Low-set ears, Genu valgum, Fibular bowing, Micrognathia, Ventricular septal defect, Crowded carpa...	OMIM:102500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint...	OMIM:618395
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, Delayed cranial suture closure, Premature os...	OMIM:611962
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Narro...	OMIM:200990
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C...	OMIM:614823
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Limited elbow movement,...	ORPHA:319171
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Hyperplasia of the maxilla, Postnatal growth retardation, Micrognathi...	OMIM:268300
Carpenter Syndrome 2	Low-set ears, Broad thumb, Carious teeth, Cutaneous finger syndactyly, Sensorineural hearing impa...	OMIM:614976
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Breech presentation, Multiple prenatal fractures, Protrusio aceta...	OMIM:610682
Trisomy 8Q	Camptodactyly of finger, Myelomeningocele, Low-set, posteriorly rotated ears, Joint stiffness, Mi...	ORPHA:1752
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl...	OMIM:619313
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Endocardial fibroelastosis, Neonatal death, Aplasia of the ulna, Hydrops fetalis	OMIM:276822
Restrictive Dermopathy 1	Low-set ears, Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Neonatal ...	OMIM:275210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Abnormal renal collecting system morphology, Methylmalonic aciduria, Hyp...	ORPHA:17
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment, Abnormality of the vertebral column, Azoospermia, Micrognathia, Sp...	OMIM:601076
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Hearing impairment, Bruising susceptibility,...	OMIM:166200
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal...	ORPHA:261183
Enthesitis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Dilatation of the ventricular cavity, Abnormal thoracic spine morphology, A...	ORPHA:85438
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ven...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ven...	ORPHA:352665
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Palpebral edema, Chylous ascites, Pleural ...	OMIM:265300
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Aortic regurgitation, Bruising susceptibility, Atrophic scars, Inguinal hernia, ...	OMIM:225320
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Ventricular hypertrophy, Recurrent otitis media, Underdeveloped tragus, Micrognathi...	OMIM:620654
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart mor...	ORPHA:79282
Congenital Tracheal Stenosis	Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Abnormal lung lobation, Abnormal s...	ORPHA:141127
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Horseshoe kidney, Ventricular septal defect, Renal cyst, Metaphys...	OMIM:250410
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Osteomalacia, Postnatal growth retardation, Genu varum, Rickets,...	ORPHA:289157
Arthrogryposis Multiplex Congenita 5	Hand clenching, Arthrogryposis multiplex congenita, Micrognathia, Talipes equinovarus, Short neck...	OMIM:618947
Primrose Syndrome	Hearing impairment, Genu valgum, Hip contracture, High palate, Macrotia, Irregular vertebral endp...	OMIM:259050
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Limitation of joint mobility, Postnatal growth retard...	ORPHA:576
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Patellar ...	ORPHA:2257
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Patella...	ORPHA:85201
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Lower li...	OMIM:186500
Biemond Syndrome Type 2	Preaxial polydactyly, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature	ORPHA:141333
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Low-set ears, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum, Joint hypermobilit...	ORPHA:1778
20P13 Microdeletion Syndrome	Low-set ears, Hypoplastic helices, Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly, P...	ORPHA:313781
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, Long philtrum, Finge...	ORPHA:73246
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Pectus carinatum, Limitation of joint mobility, Inguinal hernia, Mitral...	OMIM:236200
Microphthalmia, Syndromic 6	Low-set ears, Lambdoidal craniosynostosis, Toe syndactyly, Finger syndactyly, Hearing impairment,...	OMIM:607932
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ...	ORPHA:2869
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Low-set ears, Bifid uvula, Scoliosis, Cupped ear, Atrioventricular canal defect, Patent ductus ar...	OMIM:619480
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing...	ORPHA:96167
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, Bladder exstrophy, Duplicated colon, Anteriorl...	OMIM:258040
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Disproportionate short-limb ...	OMIM:608728
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Hypoplastic ischia, Hypospadias, Polydactyly	OMIM:616910
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of...	ORPHA:2255
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Sacral dimple, Delayed c...	ORPHA:2211
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis, Cleft lip, B...	OMIM:611812
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty...	OMIM:258865
Combined Oxidative Phosphorylation Deficiency 42	Hearing impairment, Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, N...	OMIM:618839
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Hyperplasia of the maxilla, Joint hypermobility	OMIM:613671
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Small hand, Carious teeth, Ankyloglossia, Genu valgum, Mitral regurgitation, Mitral...	OMIM:615873
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Combined Oxidative Phosphorylation Deficiency 40	Hearing impairment, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Nonimmune hydro...	OMIM:618835
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelit...	OMIM:259710
Fragile X Syndrome	Otitis media, Mitral valve prolapse, Joint hypermobility, Protruding ear, Sinusitis, Scoliosis, M...	ORPHA:908
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Mitral valve prolapse, Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology, S...	ORPHA:2233
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de...	OMIM:620076
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Ileal atresia, Joint stiffness, Micrognathia, Jejunal...	OMIM:618820
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal cerebral vascular morphology, Radial club hand, Renal insufficiency, Median cleft upper ...	ORPHA:2165
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopa...	ORPHA:369837
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Kapur-Toriello Syndrome	Joint contracture of the hand, Abnormality of the urinary system, Short thumb, Cleft upper lip, C...	OMIM:244300
Perlman Syndrome	Interrupted aortic arch, Distal ileal atresia, Renal hamartoma, Everted upper lip vermilion, Neph...	OMIM:267000
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Joint hypermobility, Postaxial polydactyly, Hydrocepha...	OMIM:616362
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Bifid uvula, Renal malrotation, Abnormal renal collecting system morph...	OMIM:113650
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Joubert Syndrome 21	Occipital encephalocele, Bell-shaped thorax, Encephalocele, Chronic sinusitis, Short ribs, Anopht...	OMIM:615636
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Faciocardiomelic Syndrome	Osteopenia, Narrow chest, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Hyp...	OMIM:612731
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Edema, Cardiomyopathy, Macrotia, Villous atrophy, Nonimmune hydrops fetalis, Abnormal...	OMIM:212065
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Absent gallbladder, Bilateral single transverse palmar creases,...	ORPHA:3310
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Brachydactyly	OMIM:600151
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele, Anteriorly placed anus, Abnormal rib morp...	ORPHA:280195
Dextrocardia	Congenital hip dislocation, Meckel diverticulum, Abnormal lung lobation, Abnormal heart morpholog...	ORPHA:1666
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,...	OMIM:615989
Kbg Syndrome	Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Macrotia, Ulnar deviation...	OMIM:148050
Kyphomelic Dysplasia	Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant...	OMIM:211350
Aspergillosis	Pneumonia, Abnormality of the vertebral column, Osteomyelitis, Pleural effusion, Abnormal long bo...	ORPHA:1163
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract...	ORPHA:1145
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, A...	ORPHA:1555
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Recurrent aspiration pneumon...	OMIM:230900
Hypophosphatasia	Narrow chest, Emphysema, Bowing of the long bones, Abnormal rib morphology, Short stature, Cranio...	ORPHA:436
Alport Syndrome	Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c...	ORPHA:63
Atelosteogenesis Type Ii	Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova...	ORPHA:56304
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Ablepharon-Macrostomia Syndrome	Low-set ears, Toe syndactyly, Microtia, third degree, Hypoplasia of the zygomatic bone, Anteriorl...	OMIM:200110
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm...	ORPHA:3103
Noonan Syndrome 14	High, narrow palate, Pectus carinatum, Low-set ears, Aortic regurgitation, Clinodactyly, Bruising...	OMIM:619745
Geleophysic Dysplasia 2	Aortic valve stenosis, Cone-shaped epiphysis, Limitation of joint mobility, Delayed skeletal matu...	OMIM:614185
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Cardiomyopathy, ...	ORPHA:445038
Cerebellofaciodental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender lo...	OMIM:616202
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Degcags Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Genu valgum, Micrognathia, Protruding tongue, U...	OMIM:619488
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Recur...	OMIM:145001
Costello Syndrome	Low-set ears, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Barrel-shaped chest...	OMIM:218040
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Spinal dysraphism, Sandal gap, Cranial hyperostosis, Lipoma, Scoliosis, Tethered cord	OMIM:612918
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Short 5th toe, Hearing impairment, Cleft soft palate, Ventricular septal d...	ORPHA:268261
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar...	OMIM:603830
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Dental malocclusion...	OMIM:269500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Sturge-Weber Syndrome	Pulmonary embolism, Hyperostosis, Hearing abnormality, Conjunctival telangiectasia, Hydrocephalus	ORPHA:3205
Cornelia De Lange Syndrome 6	Low-set ears, Pectus carinatum, Macrodontia of permanent maxillary central incisor, Scoliosis, Sh...	OMIM:620568
Flat Face-Microstomia-Ear Anomaly Syndrome	High, narrow palate, Aplasia/Hypoplasia of the earlobes, Hypoplasia of the zygomatic bone, Campto...	ORPHA:1968
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Toe syndactyly, Xerostomia, Carious teeth, Anteriorly placed anus, Ectrodactyly, H...	OMIM:604292
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Sensorineural hearing i...	OMIM:122880
Harrod Syndrome	Multicystic kidney dysplasia, Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnorm...	ORPHA:2115
Williams Syndrome	Synostosis of joints, Carious teeth, Genu valgum, Micrognathia, Mitral regurgitation, Mitral valv...	ORPHA:904
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te...	ORPHA:69735
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Limitation of joi...	ORPHA:3145
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Faciocardiorenal Syndrome	Protruding ear, Tricuspid valve prolapse, Endocardial fibroelastosis, Cleft palate	ORPHA:1973
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven...	ORPHA:99125
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Cleft upper lip, Coronary artery fistula, Tented upper lip vermilion, Macrocytic ane...	OMIM:614294
Distal Deletion 12Q	Overlapping toe, Large hands, Ectopic kidney, Duodenal atresia, Polycystic kidney dysplasia, Pate...	ORPHA:96149
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Polydactyly, Aganglionic...	ORPHA:59315
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Retrognathia, Delayed skeletal maturation, Distal sho...	ORPHA:488434
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Pancreatic lymphangiectasis, Splenomegaly, Ventricular septal defect,...	OMIM:235255
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Abnormal pericardium morphology, Abnormal mesentery morphology...	ORPHA:284
Enlarged Parietal Foramina	Broad thumb, Cleft lip, Venous malformation, Abnormal cerebral vein morphology, Short clavicles, ...	ORPHA:60015
Restrictive Dermopathy	Thin ribs, Low-set ears, Natal tooth, Increased anterioposterior diameter of thorax, Large placen...	ORPHA:1662
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Broad clavicles, Platyspondyly, Aortic regurgitation, Irregular acetabular...	OMIM:619698
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of...	ORPHA:227990
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Low-set ears, Congenital hip dislocation, Umbilical hernia, Mitral valve prolapse, Cubitus valgus...	OMIM:104350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Kinsship Syndrome	Low-set ears, Osteopenia, Cervical ribs, Sacral dimple, Ankyloglossia, Micrognathia, Single trans...	OMIM:619297
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Hypoplasia of the zygomatic bone, Abnormal dent...	ORPHA:3253
Chime Syndrome	Acute leukemia, Ventricular septal defect, Abnormality of the kidney, Short foot, Hip dislocation...	ORPHA:3474
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Inguinal hernia, Submucous cleft hard palate, Joint hypermobility, Supernumerary ri...	OMIM:619122
Mass Syndrome	Pectus carinatum, Dural ectasia, Mitral valve prolapse, Arachnodactyly, Scoliosis	OMIM:604308
Central Core Disease	Congenital hip dislocation, Multiple joint contractures, Mitral valve prolapse, Kyphoscoliosis, F...	ORPHA:597
Spondyloocular Syndrome	Low-set ears, Pectus carinatum, Platyspondyly, Osteopenia, Lymphedema, Overlapping toe, Vertebral...	OMIM:605822
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Retrognathia, Cleft soft palate, Hydrocephalus, Omphalocele, Cleft palate	ORPHA:2736
Noonan Syndrome 10	Low-set ears, Pectus carinatum, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleur...	OMIM:616564
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Delayed cranial suture closure, Talipes equinovarus, High palate, At...	OMIM:278250
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Broad hallux, Open mouth, Postaxial polydactyly, Hip dysplasia, Clinod...	ORPHA:457284
Matthew-Wood Syndrome	Low-set ears, Duodenal stenosis, Intrauterine growth retardation, Congenital diaphragmatic hernia...	ORPHA:2470
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Limb-Mammary Syndrome	Bifid uvula, Toe syndactyly, Oligodactyly, Malar flattening, Submucous cleft soft palate, Protrud...	ORPHA:69085
Severe Congenital Nemaline Myopathy	Thin ribs, Low-set ears, Premature birth, Abnormal thorax morphology, Decreased fetal movement, I...	ORPHA:171430
Aase-Smith Syndrome I	Slender finger, Open mouth, Ventricular septal defect, Talipes equinovarus, Cleft palate	OMIM:147800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Inguinal hernia, Short ribs...	OMIM:271520
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Long penis, Aortic root aneurysm, Downturned corners of mouth, Ca...	OMIM:135500
Proboscis Lateralis	Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Abnormal ethmoid bone mo...	ORPHA:141099
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Clinodactyly of the 5th fi...	ORPHA:2031
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Cholestasis, Hepatosplenomegaly, Epiphyseal stippling, Splenomegaly, Single transver...	OMIM:614866
Aneurysm-Osteoarthritis Syndrome	Intervertebral disk degeneration, Mitral regurgitation, Arachnodactyly, Knee osteoarthritis, High...	ORPHA:284984
Teebi-Shaltout Syndrome	Aortic valve stenosis, High, narrow palate, Caudal appendage, Ureteral stenosis, Horseshoe kidney...	OMIM:272950
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Arte...	ORPHA:1556
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hearing impairment...	ORPHA:1647
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly, Pre...	OMIM:618838
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Hydrops fetalis, Growth delay, Cardiomyopathy	ORPHA:88618
Juvenile Paget Disease	Pectus carinatum, Abnormal clavicle morphology, Hearing impairment, Coarse metaphyseal trabecular...	ORPHA:2801
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin...	ORPHA:3027
Hyperparathyroidism, Transient Neonatal	Thin ribs, Low-set ears, Narrow chest, Fractured rib, Osteopenia, Metaphyseal spurs, Umbilical he...	OMIM:618188
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Aplastic anemia, Renal agenesis, Duodenal atresia, Abnormal lung lobati...	OMIM:300514
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Pectus carinatum, Contractures of the large joints, Micrognathia, Single transverse...	OMIM:617527
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Clinodactyly, Down-sloping shoulders, Renal cyst, Scapular wi...	OMIM:615560
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular sept...	OMIM:107480
Meester-Loeys Syndrome	Bifid uvula, Broad distal phalanx of finger, Pulmonary artery aneurysm, Joint dislocation, Bruisi...	OMIM:300989
Joubert Syndrome 17	Postaxial polydactyly, Abnormal renal morphology, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Unilateral microphthalmos, Malar flattening, Mitral valve prolapse, Bilateral clef...	OMIM:618874
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Hearing impairment, Overlap...	OMIM:613406
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Cardiomyopathy, Pathologic fr...	ORPHA:52430
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Intervertebral disk degeneration, Mitral valve prolapse, Mitral regurgit...	OMIM:613795
Lymphatic Malformation 5	Cleft palate, Hypoplasia of lymphatic vessels	OMIM:153200
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Low-set ears, Atres...	OMIM:301022
Sirenomelia	Aplasia/Hypoplasia of the radius, Absence of the sacrum, Sirenomelia, Tracheoesophageal fistula, ...	ORPHA:3169
Opsismodysplasia	Low-set ears, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cu...	OMIM:258480
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Retrognathia, Atelectasis, Decreased fetal movement, Neonatal death, Joint hypermobili...	OMIM:300219
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Hepatic steatosis,...	OMIM:614922
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Abnormality of the abdominal wall, Xerostomia, Sinusitis	ORPHA:238468
Joubert Syndrome 37	Low-set ears, Lumbar hyperlordosis, Joint hypermobility, Postaxial polydactyly, Microphthalmia, S...	OMIM:619185
Ogden Syndrome	Low-set ears, Delayed cranial suture closure, Recurrent otitis media, Postnatal growth retardatio...	OMIM:300855
Hydrolethalus Syndrome 2	Preaxial foot polydactyly, Postaxial foot polydactyly, Cleft palate, Postaxial hand polydactyly	OMIM:614120
Severe Oculo-Renal-Cerebellar Syndrome	Hypoplasia of the zygomatic bone, Sandal gap, Large earlobe, Malar prominence, Joint hypermobilit...	ORPHA:2715
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Lymphedema, Reduced subcutaneous adipose...	OMIM:137940
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Microretrognathia, Hypoplasia of the zygomatic bone, Aganglionic megacolon, Talipes...	OMIM:613603
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Distal Deletion 3P	Hearing impairment, Umbilical hernia, Atrioventricular canal defect, Low-set, posteriorly rotated...	ORPHA:1620
Distal Duplication 17Q	Accessory spleen, Rhizomelia, Abnormal heart morphology, Overlapping toe, Genu valgum, Vesicouret...	ORPHA:3379
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Abnormal tricuspid valve morphology, Bowing of the long bo...	ORPHA:199276
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Low-set, posteriorly rotated ears, Postnatal growth re...	ORPHA:263508
Prolidase Deficiency	Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Hearing impairment, Ab...	ORPHA:742
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Brittle Cornea Syndrome 1	Congenital hip dislocation, Atypical scarring of skin, Dentinogenesis imperfecta, Hearing impairm...	OMIM:229200
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Patent ductus a...	ORPHA:464306
Mitral Valve Prolapse 1	High, narrow palate, Mitral regurgitation, Mitral valve prolapse, Reversed usual vertebral column...	OMIM:157700
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Bilateral lung agenesis, Unila...	ORPHA:49
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ...	OMIM:620570
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Vesicoureteral reflux, Polydactyly, Atrial septal defect, High palate, Thin ...	OMIM:619869
Laurence-Moon Syndrome	Micropenis, Abnormality of the hand, Polydactyly	OMIM:245800
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Leukemia, Long philtrum, Nephroblastoma, Triangular mouth, Renal cy...	OMIM:257300
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S...	OMIM:180700
8P11.2 Deletion Syndrome	Azoospermia, Micrognathia, Mitral valve prolapse, Supernumerary ribs, Talipes equinovarus, Patent...	ORPHA:251066
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst, Atresia of the external audito...	OMIM:609166
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At...	OMIM:224700
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Finger aplasia, Hand polydactyly, Arteriovenous fistula, Lymphangioma, Syndactyly	OMIM:149000
Cerebellar-Facial-Dental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Infancy onset short-trunk short...	ORPHA:444072
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Umbilical hernia, Camptodactyl...	ORPHA:464
Ectopia Lentis 1, Isolated, Autosomal Dominant	Pectus carinatum, Microspherophakia, Mitral valve prolapse, Joint hypermobility, Arachnodactyly, ...	OMIM:129600
Bardet-Biedl Syndrome 1	High, narrow palate, Hepatic fibrosis, Postaxial foot polydactyly, Dental crowding, Radial deviat...	OMIM:209900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydro...	OMIM:236700
Orofaciodigital Syndrome Xiv	Low-set ears, Natal tooth, Occipital encephalocele, Micrognathia, Ventricular septal defect, Atri...	OMIM:615948
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Abnormal bleeding, Lymphedema, Abnormal heart morphology, Congestive hear...	ORPHA:137667
Legius Syndrome	Hearing impairment, Abnormal sternum morphology, Vestibular schwannoma, Mitral valve prolapse, Po...	ORPHA:137605
Monosomy 9P	Low-set ears, Limitation of joint mobility, Atresia of the external auditory canal, Micrognathia,...	ORPHA:261112
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Broad hallux, Vesicoureteral reflux, Tented ...	OMIM:614749
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Intrauterine growth retardatio...	OMIM:618651
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup...	ORPHA:79404
Aymé-Gripp Syndrome	Low-set ears, Reduced arm span, Limitation of joint mobility, Delayed cranial suture closure, Pos...	ORPHA:1272
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy,...	OMIM:619127
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Micrognathia, Mitral regurgitation, Mitral valve p...	ORPHA:555877
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Low-set, posteriorly rotated ears, Int...	ORPHA:1506
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,...	OMIM:268305
Congenital Contractural Arachnodactyly	Crumpled ear, Congenital contracture, Arthrogryposis multiplex congenita, Congenital kyphoscolios...	ORPHA:115
Rabson-Mendenhall Syndrome	Cardiomyopathy, Delayed skeletal maturation, Furrowed tongue, Intrauterine growth retardation, Re...	ORPHA:769
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Mitral valve prolapse, Joint hypermobility,...	ORPHA:230839
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Osteomalacia, Genu valgum, Micrognathia, Microphthalmia, Patellar dislocation, Chr...	ORPHA:534
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of...	ORPHA:227982
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Hydrops fetalis, Abnormality of the...	OMIM:609015
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Retrognathia, Sacral dimple, Clinodactyly of the 5th finger, Increased nuchal transl...	ORPHA:544488
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Ventricul...	OMIM:301068
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Abnormal lung lobation, Stomach cancer, Intestinal polyposis, Abnor...	ORPHA:1052
Cutis Laxa, Autosomal Recessive, Type Ic	Micrognathia, Breech presentation, Periorbital edema, Rectal prolapse, Osteopenia, Tracheomalacia...	OMIM:613177
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric...	OMIM:314400
Solitary Median Maxillary Central Incisor	Short stature, Holoprosencephaly, Anophthalmia, Microphthalmia	OMIM:147250
Joubert Syndrome 39	Hypoplastic left heart, Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of ...	OMIM:619562
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hearing impairment, Joint contracture of the 5th finger, Mitral valve prolapse, Ven...	OMIM:602782
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Dark urine, Hepatic steatosis, P...	ORPHA:79303
Ulbright-Hodes Syndrome	Thin ribs, Low-set ears, Postnatal growth retardation, Fibular aplasia, Micrognathia, Humeroradia...	ORPHA:3404
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Long philtrum, Horseshoe kidney, Camptodactyly of fi...	DECIPHER:81
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Low-set ears, Hearing impairment, Recurrent otitis media, Mitral regurgitat...	OMIM:252940
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Spontaneous pneumothorax, Bifid uvula, Vertebral artery aneurysm, Broad ...	OMIM:619656
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Internally rotated shoulders, Hepatosplenomegaly, Cleft soft palate, Narrow mouth, H...	OMIM:619503
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Pulmonary arteria...	ORPHA:2519
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,...	ORPHA:228308
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Long philtrum, Cholestasis, Portal hypertensi...	OMIM:610199
Neurofibromatosis, Type I	Genu valgum, Tibial pseudarthrosis, Hypertension, Aqueductal stenosis, Hydrocephalus, Spina bifid...	OMIM:162200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Hypoplasia of the zygomatic bone, Postnatal growth retardat...	OMIM:614800
3Mc Syndrome 3	Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Horseshoe kidney, Radioulnar ...	OMIM:248340
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Microphthalmia, Short metacarpal, Ovoid vertebral bodi...	ORPHA:85167
Townes-Brocks Syndrome	Toe syndactyly, Broad thumb, Atrial septal defect, Abnormality of the kidney, Rectoperineal fistu...	ORPHA:857
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature...	OMIM:608681
Lethal Congenital Contracture Syndrome 9	Low-set ears, Joint contracture of the hand, Micrognathia, Talipes equinovarus, Thoracic kyphosco...	OMIM:616503
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transver...	OMIM:618161
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Kyphoscoliosis...	OMIM:252930
Phelan-Mcdermid Syndrome	Dental malocclusion, Long philtrum, Widely spaced teeth, Vesicoureteral reflux, Ventricular septa...	OMIM:606232
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Conductive hearing impairment, Bruising susceptibility, Corneal sc...	ORPHA:90354
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Azoospermia, Vertebral segmentation defect, Short neck, Abnormal rib morpholo...	ORPHA:2578
Adnp Syndrome	Low-set ears, Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, Broad hallux...	ORPHA:404448
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiomyomatosis, Abno...	ORPHA:538
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Abnormality of the sphenoid sinus, Genu valgum, Micrognathia, Mitral r...	ORPHA:363700
Orofaciodigital Syndrome X	Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa...	OMIM:165590
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Cardiomegaly, ...	OMIM:252920
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hydrops fetalis, Short stature, Wide anterior fontanel	OMIM:613673
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Cleft lip, Annular pancreas, Duodenal atresia, Furrowed tongue, Vesicouret...	OMIM:616975
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Postaxial foot polydactyly, Stage 5 chronic kidney disease, W...	OMIM:243910
Diamond-Blackfan Anemia 10	Low-set ears, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hearing impairment, A...	OMIM:613309
Retinitis Pigmentosa 51	Abnormality of the kidney, Polydactyly	OMIM:613464
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Disproportionate short stature, Abnormal scap...	ORPHA:93317
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cellulitis, Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Protru...	ORPHA:2526
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Popliteal pterygium, Joint stiffness, Micr...	ORPHA:1300
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Fetal distress, Intrauteri...	OMIM:619793
Alagille Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy...	OMIM:118450
Bifid Nose With Or Without Anorectal And Renal Anomalies	Low-set ears, Anteriorly placed anus, Posteriorly rotated ears, Overfolded helix, Rectovaginal fi...	OMIM:608980
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Umbilical hernia, Intestinal malrotation, Neoplasm of the heart, Omphalocele, Polyhyd...	ORPHA:2241
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate	OMIM:243440
Chromosome 13Q14 Deletion Syndrome	Low-set ears, Anteverted ears, Hearing impairment, Umbilical hernia, Overlapping toe, Micrognathi...	OMIM:613884
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Hyperplasia of the maxilla, Malar prominence, Genu valgum, High-output co...	ORPHA:231226
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal lower motor neuron morphology, Tracheoesophageal ...	ORPHA:93941
Lymphatic Malformation 13	Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Neon...	OMIM:620244
Cranioectodermal Dysplasia 1	Low-set ears, Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all fingers, Broad t...	OMIM:218330
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi...	ORPHA:402075
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Short toe, Duodenal atresia, Ventr...	ORPHA:464311
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Failure of eruption of permanent teeth, Inguinal hernia, Submucous cleft hard palate...	ORPHA:2250
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Sandal gap, Long philtrum, Camptodactyly of finge...	ORPHA:261349
Exstrophy-Epispadias Complex	Anal stenosis, Abdominal wall defect, Abnormal joint morphology, Abnormal heart morphology, Cysto...	ORPHA:322
Hartsfield Syndrome	Low-set ears, Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencepha...	OMIM:615465
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Postnatal growth retardation, High palate, Atrial septal dilatation,...	ORPHA:2834
Blepharocheilodontic Syndrome 1	Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis, Single transverse palmar crease, Hip dysplasia, Short stature, High palate,...	ORPHA:457240
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla...	ORPHA:989
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital h...	ORPHA:1454
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Retrognathia, Joint hypermobility, Polyhydramnios, High palate	ORPHA:456328
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Zellweger Syndrome	Multicystic kidney dysplasia, Epiphyseal stippling, Ventricular septal defect, Hydronephrosis, He...	ORPHA:912
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Combined Immunodeficiency-Enteropathy Spectrum	Congenital pulmonary airway malformation, Jejunoileal ulceration, Intestinal malrotation, Intraut...	ORPHA:436252
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Joint stiffness, Genu valgum, A...	ORPHA:1295
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Stromme Syndrome	Low-set ears, Preaxial polydactyly, Intestinal malrotation, Micrognathia, Jejunal atresia, Hydroc...	OMIM:243605
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Postaxial foot polydactyly, Clinodactyly, Triangular-shaped open m...	OMIM:213300
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke, Hepatic a...	OMIM:175050
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Recurrent urinary tract infections, Renal duplication, Abnormality of the pulmon...	ORPHA:33001
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Xerostomia, Finger syndactyly, Oral leukoplakia, Camptodactyly of finger, Hear...	ORPHA:2907
Isolated Anencephaly	Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Floating-Harbor Syndrome	Low-set ears, Broad thumb, Carious teeth, Recurrent otitis media, Short neck, Atrial septal defec...	OMIM:136140
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hema...	ORPHA:449395
Xylt1-Cdg	Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Joint dislocation, Broad ribs, Joint ...	ORPHA:370930
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Short stature, Tape...	ORPHA:1920
Osteopetrosis, Autosomal Recessive 5	Flared metaphysis, Cranial hyperostosis, Ascites, Micrognathia, Decreased osteoclast count, Osteo...	OMIM:259720
Trisomy 10P	Short toe, Abnormal lip morphology, Thumb contracture, Abnormal heart morphology, Abnormal hip jo...	ORPHA:171929
Criss-Cross Heart	Abnormal thorax morphology, Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve...	ORPHA:1461
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage,...	ORPHA:335
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Tuberous Sclerosis 1	Dental enamel pits, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Re...	OMIM:191100
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Cleft palate	ORPHA:95706
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, Postnatal growth retardation, Congenital diaphragmatic hernia, ...	OMIM:135900
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Semilobar holoprosencephaly, Conductive hearing impairment, Hypoplasia of the zygom...	OMIM:618500
Caffey Disease	Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos...	ORPHA:1310
Beta-Thalassemia Major	Dilated cardiomyopathy, Hyperplasia of the maxilla, Malar prominence, Genu valgum, High-output co...	ORPHA:231214
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Proteinuria, 2-3 toe syndactyly, Postaxial polydactyly, Pancreatitis, ...	OMIM:619471
Coffin-Siris Syndrome 4	Short 5th finger, Macroglossia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermi...	OMIM:614609
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Recurrent patellar dislocation, Microphthalmia, 3-4...	OMIM:615877
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Aplasia/Hypoplasia of the pubic bone, Postnatal growth retardation, Talipes equinov...	OMIM:269150
Joubert Syndrome 23	Polydactyly	OMIM:616490
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short stature, Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone	ORPHA:2835
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Renal hypoplasia/aplasia, Anal atresia, Short foot,...	ORPHA:709
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Abnormal thorax...	ORPHA:758
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Situs inversus totalis, Microphthalmia, Short stature, Flexion contracture, Mild short...	OMIM:614833
Alkaptonuria	Aortic valve calcification, Limited hip movement, Intervertebral disk degeneration, Arthropathy, ...	OMIM:203500
Lymphatic Malformation 1	Cellulitis, Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune h...	OMIM:153100
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Cardiomyopathy, Hepatic peripor...	ORPHA:26791
D-Bifunctional Protein Deficiency	Long philtrum, Cholestasis, Hepatic steatosis, Splenomegaly, Renal cyst, Talipes equinovarus, Spl...	OMIM:261515
Sacral Defect With Anterior Meningocele	Sacral lipoma, Dermal sinus tract, Hydromyelia, Absence of the sacrum, Myelomeningocele, Myelosch...	OMIM:600145
Joubert Syndrome 2	Nephronophthisis, Postaxial foot polydactyly, Renal insufficiency, Renal cyst, Postaxial hand pol...	OMIM:608091
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Abnormal sternum morphology, Mitral valve prola...	OMIM:177850
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormal heart mo...	ORPHA:699
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ...	OMIM:248390
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Low-set ears, Natal tooth, Clinodactyly, Micrognathia, Reduced subcutaneous adipose ti...	OMIM:264090
Epidermal Nevus Syndrome	Aortic aneurysm, Polycystic kidney dysplasia, Weakness of long finger extensor muscles	ORPHA:35125
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko...	ORPHA:53035
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas...	ORPHA:480536
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Delayed skeletal maturation, ...	OMIM:260400
Culler-Jones Syndrome	Micropenis, Postaxial polydactyly, Cleft palate, Cleft upper lip	OMIM:615849
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Pulmonary lymphangiomyomatosis, Respirato...	ORPHA:805
Microphthalmia, Syndromic 5	Anophthalmia, Joint hypermobility, Microphthalmia, Short stature, Cleft palate, Optic nerve hypop...	OMIM:610125
Pyknoachondrogenesis	Low-set ears, Craniofacial hyperostosis, Abnormal intramembranous ossification, Unossified sacrum...	ORPHA:3003
Occipital Horn Syndrome	Genu valgum, High palate, Pectus carinatum, Broad clavicles, Limited elbow extension, Limited kne...	OMIM:304150
Bladder Exstrophy	Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ...	ORPHA:93930
Histiocytoid Cardiomyopathy	Stroke-like episode, Ventricular septal defect, Pulmonary edema, Renal cyst, Polycystic ovaries, ...	ORPHA:137675
Autoinflammatory Disease, Systemic, With Vasculitis	Parotitis, Intrauterine growth retardation, Cardiomegaly, Small vessel vasculitis, Arthritis, Per...	OMIM:620376
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatic calcification, Hepatomeg...	ORPHA:157
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Progressive congenital scoliosis, Arachnodactyly, Talipes equinovarus, Protrusio aceta...	OMIM:225400
Van Buchem Disease	Thickened cortex of long bones, Hearing impairment, Cranial hyperostosis, Increased bone mineral ...	OMIM:239100
Pancreatic Agenesis-Holoprosencephaly Syndrome	Low-set ears, Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Intrauterine growth ...	ORPHA:556955
Lymphangiectasia, Intestinal	Edema, Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Pedal edema	OMIM:152800
Shprintzen Omphalocele Syndrome	Narrow chest, Lumbar hyperlordosis, Single umbilical artery, Omphalocele, Short stature, Anal atr...	OMIM:182210
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone	ORPHA:3074
Cap Myopathy	Sinus tachycardia, Lumbar hyperlordosis, Mitral valve prolapse, Thoracic scoliosis, Reduced systo...	ORPHA:171881
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Abnormality of the dentition, Atheroscler...	OMIM:203800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set ears, Small hand, Limitation of joint mobility, Hearing impairment, Overlapping toe, Abno...	ORPHA:480880
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Lymphedema, Mitral valve prolapse, Brachydactyly, Pulmonary lymphangiec...	OMIM:247410
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Recurrent otitis media, Broad ribs, Genu valgum, Limited elbow extension, Broad...	OMIM:301066
Anemia, Congenital Dyserythropoietic, Type Ia	Hydrops fetalis, Mild postnatal growth retardation, Syndactyly	OMIM:224120
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:613254
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,...	ORPHA:2237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn...	OMIM:620025
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Abnormality of endocrine pancr...	ORPHA:93111
Pseudo-Torch Syndrome 2	Thin ribs, Secundum atrial septal defect, Fetal distress, Ascites, Cerebral hemorrhage, Pleural e...	OMIM:617397
Branchiootic Syndrome	Abnormality of the outer ear, Branchial fistula, Conductive hearing impairment, Hearing impairmen...	ORPHA:52429
Trichohepatoenteric Syndrome 1	Cholestasis, Narrow mouth, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospad...	OMIM:222470
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling	OMIM:614862
Coccidioidomycosis	Pneumonia, Vasculitis, Atypical scarring of skin, Vasospasm, Hearing impairment, Abnormality of t...	ORPHA:228123
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Ehlers-Danlos Syndrome, Vascular Type	Mitral valve prolapse, Talipes equinovarus, Pulmonary bulla, Finger joint hypermobility, Absent e...	OMIM:130050
Hepatoerythropoietic Porphyria	Osteopenia, Abnormal bleeding, Osteolysis, Erythrodontia, Nonimmune hydrops fetalis, Scarring, Sc...	ORPHA:95159
Isolated Cleft Lip	Conductive hearing impairment, Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxi...	ORPHA:199302
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita...	ORPHA:480520
Familial Tumoral Calcinosis	Hyperostosis, Bone pain	ORPHA:53715
Lumbar Syndrome	Myelomeningocele, Ectopic anus, Spina bifida, Anal atresia, Bladder exstrophy	ORPHA:83628
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Oligohydramnios, Sensorineural hearing impairment, Postaxial pol...	OMIM:615824
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Taurodontia, Hypoplasia of the maxilla	OMIM:305100
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Recurrent otitis media, Mitral valve prolapse, Joint hypermobility, Hypert...	ORPHA:449291
Bardet-Biedl Syndrome	Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Inflammation of the large intes...	ORPHA:110
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis	ORPHA:1198
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal...	ORPHA:1329
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Beckwith-Wiedemann Syndrome	Cardiomyopathy, Diastasis recti, Cardiomegaly, Accelerated skeletal maturation, Omphalocele, Plac...	OMIM:130650
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Abnormal bleeding, Bruising susceptibility, Panniculitis, Gastritis, Neoplasm of the ...	ORPHA:3261
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polyposis	OMIM:617100
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Epiphyseal stippling, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Williams-Beuren Syndrome	Recurrent otitis media, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, S...	OMIM:194050
Neurooculorenal Syndrome	Short 1st metacarpal, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot with pu...	OMIM:620305
Pseudohypoparathyroidism Type 1A	Sensorineural hearing impairment, Short neck, Short metacarpal, Broad distal phalanx of the thumb...	ORPHA:79443
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s...	OMIM:615220
Aspartylglucosaminuria	Abnormal vertebral morphology, Pectus carinatum, Carious teeth, Delayed skeletal maturation, Umbi...	ORPHA:93
Mody	Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Renal cyst, He...	ORPHA:552
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the ha...	OMIM:184253
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Anophthalmia, Omphalocele, Microphthalmia	OMIM:248450
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Hearing impairment, Broad ribs, Sclerosis of skull base, Incre...	OMIM:619727
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent lower respiratory tract infections, Multic...	OMIM:619774
Frontofacionasal Dysplasia	Cranium bifidum occultum, Bifid uvula, Hypoplasia of the frontal bone, Malar flattening, Frontal ...	OMIM:229400
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Palmar telangiectasia, Nonimmune hydrops fe...	OMIM:607823
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Congenital Erythropoietic Porphyria	Osteopenia, Abnormal bleeding, Osteolysis, Erythrodontia, Nonimmune hydrops fetalis, Increased co...	ORPHA:79277
Semilobar Holoprosencephaly	Bifid uvula, Growth delay, Aspiration pneumonia, Abnormal heart morphology, Sensorineural hearing...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Growth delay, Aspiration pneumonia, Abnormal heart morphology, Sensorineural hearing...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Growth delay, Aspiration pneumonia, Abnormal heart morphology, Sensorineural hearing...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Growth delay, Aspiration pneumonia, Abnormal heart morphology, Sensorineural hearing...	ORPHA:93924
Cholestasis, Progressive Familial Intrahepatic, 5	Ascites, Pleural effusion, Prolonged prothrombin time, Nonimmune hydrops fetalis	OMIM:617049
Split Lower Lip	Narrow maxilla	OMIM:183400
Isolated Exencephaly	Low-set ears, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Polyhydramnios...	ORPHA:563612
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Sclerosis of han...	ORPHA:79474
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Genu valgum, Gastrointestinal angiodysplasia, Hepatic steato...	ORPHA:881
Ehlers-Danlos Syndrome, Classic-Like, 1	Joint subluxation, Bruising susceptibility, Atrophic scars, Quadricuspid aortic valve, Mitral val...	OMIM:606408
Nephronophthisis 11	Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kid...	OMIM:613550
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs...	OMIM:149730
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Hearing impairment, Abnormal ear morphology, Vertebral seg...	ORPHA:3109
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Cleft upper lip, Tetralogy of Fall...	OMIM:100300
Lead Poisoning	Delayed eruption of teeth, Delayed skeletal maturation, Cranial hyperostosis, Delayed puberty, Ol...	ORPHA:330015
Lethal Congenital Contracture Syndrome 5	Thin ribs, Congenital contracture, Subdural hemorrhage, Retinal hemorrhage, Decreased fetal movem...	OMIM:615368
Genitopatellar Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bow...	OMIM:606170
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Duodenal atresia, Median cleft palate, Patent foramen ovale, Ventricular ...	OMIM:301043
Von Hippel-Lindau Syndrome	Polycythemia, Multiple renal cysts, Renal cell carcinoma, Pulmonary capillary hemangiomatosis, He...	OMIM:193300
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Anal stenosis, Hypoplasia of the iris, Aniridia, Rieger anomaly, Anal ...	OMIM:180500
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Lobulated tongue, Broad hallux, Hamartoma of tongue, Deviation of the...	ORPHA:434179
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Atypical scarring of skin, Palmoplantar keratoderma, Finger ...	ORPHA:2908
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Carious teeth, Mitral valve prolapse, Abnormal intestine morp...	ORPHA:286
Galactosialidosis	Severe short stature, Conjunctival telangiectasia, Hearing impairment, Nonimmune hydrops fetalis	OMIM:256540
Choanal Atresia	Tracheomalacia, Chronic sinusitis, Polydactyly, Craniosynostosis, Recurrent respiratory infections	ORPHA:137914
Treacher Collins Syndrome 2	Microretrognathia, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Retrognathia,...	OMIM:613717
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Lymphedema, Mitral valve prolapse, Brachydactyly, Short stature	ORPHA:1563
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:266200
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Underdeveloped superior crus of antihelix, Delayed eruption of teeth, Hearin...	ORPHA:369950
Von Hippel-Lindau Disease	Polycythemia, Cardiomyopathy, Elevated urinary catecholamine level, Stroke, Pancreatic islet cell...	ORPHA:892
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, ...	ORPHA:99880
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit...	OMIM:600740
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Edema, Intestinal fistula, Arterial oc...	ORPHA:100078
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Hypotension, Growth delay, Delayed skeletal maturation, Median cleft palate, Decrease...	ORPHA:95494
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Elbow dislocation, Mitral valve prolapse, Arachnodactyly, Arrhythmi...	ORPHA:285
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Parathyroid Carcinoma	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, ...	ORPHA:143
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of molar, Aplasia of the maxilla, Respiratory tract infection, Agenesis of lateral incisor	OMIM:313500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Delayed skeletal maturation, Calvarial hyperostosis, Steatorrhea	OMIM:612714
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos...	ORPHA:220460
Osteopetrosis With Renal Tubular Acidosis	Conductive hearing impairment, Retrognathia, Persistence of primary teeth, Micrognathia, Oligohyd...	ORPHA:2785
Niemann-Pick Disease Type C	Fetal ascites, Hearing impairment, Aspiration pneumonia, Ascites, Aplasia/Hypoplasia of the abdom...	ORPHA:646
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Pancrea...	ORPHA:261265
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Proximal muscle weakness in upper limbs, Decreased fetal movement, Polyhydramnios, Pyl...	ORPHA:169189
Hyperostosis Cranialis Interna	Abnormal vestibular function, Hyperostosis cranialis interna, Sensorineural hearing impairment, T...	OMIM:144755
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Villous atrophy, Hydrops fetalis, Dehydration	OMIM:557000
Thoracic Outlet Syndrome	Edema, Abnormal rib morphology	ORPHA:97330
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Tricuspid regurg...	OMIM:620233
Chand Syndrome	Short fifth metatarsal, Hydroureter, Atelectasis, Agenesis of permanent teeth, Abnormal oral fren...	ORPHA:1401
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly	OMIM:616562
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Neuromuscular Oculoauditory Syndrome	Talipes equinovarus, Wrist flexion contracture, Reduced renal corticomedullary differentiation, M...	OMIM:618733
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Short stature, Natal tooth, Cranial hyperostosis	OMIM:601345
Aprosencephaly Syndrome	Finger aplasia, Aprosencephaly, Anencephaly	OMIM:207770
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Recurrent pneumonia, Multiple rib fractures, Femur fracture,...	OMIM:612301
Isolated Posterior Meningocele	Hydromyelia, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital ...	ORPHA:268810
Hereditary Elliptocytosis	Postnatal growth retardation, Hydrops fetalis	ORPHA:288
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Sensorineural hearing impairment, Polyhydramnios, Hydrops fetalis, Edema, Prematu...	OMIM:602522
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Cranial hyperostosis, Osteopetrosis, Short stature, Diaphyseal sclerosis	OMIM:259730
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Omphalocele Syndrome, Shprintzen-Goldberg Type	Anal atresia, Scoliosis, Omphalocele	ORPHA:3164
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery stenosis, Abn...	ORPHA:3427
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Ascites...	ORPHA:99827
Neuroendocrine Neoplasm Of Appendix	Hypotension, Palpitations, Mechanical ileus, Ileal adenocarcinoma, Midgut malrotation, Adenocarci...	ORPHA:100079
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts	OMIM:609180
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Sensorineural hearing impairment, Hemivertebrae, Scoliosis	OMIM:614688
Mpdu1-Cdg	Thin vermilion border, Renal cortical cysts	ORPHA:79323
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Preaxial polydactyly	ORPHA:163681
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Downturned corners of mouth, Long philtrum, Renal cortical cysts, Vesicoureteral reflux, Thin upp...	OMIM:618548
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus...	ORPHA:340
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Tented philtrum, Anteriorly placed anus, Long philtrum, Renal cyst, Hypospadias	ORPHA:495875
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces...	ORPHA:99826
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Alström Syndrome	Lumbar scoliosis, Thickened ears, Oligozoospermia, Abnormality of dental color, Abnormal coronary...	ORPHA:64
Pmm2-Cdg	Hepatic fibrosis, Long philtrum, Aspiration pneumonia, Hypertrophic cardiomyopathy, Proteinuria, ...	ORPHA:79318
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Retinitis Pigmentosa 80	Cone-shaped epiphyses of the phalanges of the hand	OMIM:617781
Retinitis Pigmentosa	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:791

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 Ift140

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 Ift140.

There are 12 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.	PLoS biology (December 2023)	Ift140^{tm1a(KOMP)Wtsi}	PMC10735189
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ift140^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Ift140^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ift140^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ift140^{tm1a(KOMP)Wtsi}	PMC6459510
Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice.	Cytoskeleton (Hoboken, N.J.) (January 2018)	Ift140^{tm1c(KOMP)Wtsi}	PMC5809318
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Ift140^{tm1a(KOMP)Wtsi}	PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ift140^{tm1a(KOMP)Wtsi}	PMC5827107
Distinct functions for IFT140 and IFT20 in opsin transport.	Cytoskeleton (Hoboken, N.J.) (March 2014)	Ift140^{tm1c(KOMP)Wtsi} Ift140^{tm1b(KOMP)Wtsi}	PMC4173073
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.	PLoS genetics (August 2013)	Ift140^{tm1a(KOMP)Wtsi} Ift140^{tm1b(KOMP)Wtsi}	PMC3757063
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.	Human mutation (May 2013)	Ift140^{tm1b(KOMP)Wtsi}	PMC4226634
Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation.	Journal of the American Society of Nephrology : JASN (January 2012)	Ift140^{tm1c(KOMP)Wtsi} Ift140^{tm1a(KOMP)Wtsi} Ift140^{tm1b(KOMP)Wtsi}	PMC3312512

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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
Ift140^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ift140^{tm43321(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ift140^{tm2a(EUCOMM)Wtsi}	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: Ift140 MGI:2146906

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

DSS Histology

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Ift140 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data