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Gene: Dvl2 MGI:106613

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

dishevelled segment polarity protein 2

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

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.

Phenotype associated images not available

Human diseases caused by Dvl2 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 Dvl2 (0 diseases)
Human diseases predicted to be associated with Dvl2 (1088 diseases)

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

The table below shows human diseases predicted to be associated to Dvl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Block vertebrae, Aplasia of posterior communicating artery, Short th...	OMIM:613686
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death...	OMIM:618845
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Death i...	ORPHA:1354
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Kyphoscoliosis, Rib fusi...	OMIM:277300
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist...	ORPHA:1209
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Poland Syndrome	Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Dextrocardia, U...	OMIM:173800
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda...	ORPHA:261243
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck...	ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Finger syndacty...	ORPHA:2311
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormality of the vertebral column, Abnormal heart morphology, Abnormal hip bone morphology, Abn...	ORPHA:294975
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Pectus carinatum, Secundum atrial septal defect, Aortic root aneurysm, Clinodac...	OMIM:619910
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Becker Nevus Syndrome	Pectus carinatum, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bifida occulta...	ORPHA:64755
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, Sp...	OMIM:617877
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Basal Cell Nevus Syndrome 1	Short 4th metacarpal, Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morp...	OMIM:109400
Eng-Strom Syndrome	Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morpho...	ORPHA:1937
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricular septal defect, Cer...	ORPHA:2345
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Cardiac fibroma, Rib fusion, Arachnodactyly, Hy...	ORPHA:377
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Hydranencephaly, Short distal phalanx of finger, Ventricular septal defect	OMIM:601355
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Diabetic Embryopathy	Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Ve...	ORPHA:1926
Verheij Syndrome	Short 5th finger, Branchial cyst, Clinodactyly, Truncus arteriosus, Ventricular septal defect, Sh...	OMIM:615583
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect...	OMIM:314390
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal...	ORPHA:392
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Mi...	OMIM:220210
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs...	ORPHA:1394
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa...	ORPHA:1913
Criss-Cross Heart	Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal...	ORPHA:1461
Carpenter Syndrome 1	Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricular septal defect, Short neck, Co...	OMIM:201000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de...	ORPHA:1120
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros...	OMIM:609052
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula...	OMIM:231060
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve...	OMIM:306955
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short distal phalanx of finger, Abnormal aortic morphology, Truncus arteriosus, Ventricular septa...	ORPHA:2516
Recombinant Chromosome 8 Syndrome	Tetralogy of Fallot, Clinodactyly of the 5th finger, Ventricular septal defect, Double outlet rig...	OMIM:179613
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap...	ORPHA:2635
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventr...	ORPHA:251071
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Narrow chest, Overlapping toe, Postaxial hand polydactyly, Rib fusion, Short neck, Sprengel anoma...	OMIM:213980
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial sep...	ORPHA:401935
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Camptodactyly of finger, Radial deviation of the 2nd finger, Clino...	ORPHA:1388
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Diaphanospondylodysostosis	Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm...	ORPHA:66637
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At...	ORPHA:185
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defect, Bicuspid aortic ...	ORPHA:508498
Nemaline Myopathy 9	Narrow chest, Scoliosis, Ventricular septal defect	OMIM:615731
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Perching Syndrome	Camptodactyly, Scoliosis, Cyanosis	OMIM:617055
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Sacral dimple, Truncus arteriosus, Ventricular...	ORPHA:96170
Femoral-Facial Syndrome	Toe syndactyly, Encephalocele, Humeroradial synostosis, Ventricular septal defect, Radioulnar syn...	OMIM:134780
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal sternum morphology,...	OMIM:192350
Adams-Oliver Syndrome 6	Foot oligodactyly, Cutis marmorata, Truncus arteriosus, Ventricular septal defect, Brachydactyly,...	OMIM:616589
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, Patent foramen...	OMIM:618316
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh...	OMIM:617405
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal...	ORPHA:2790
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Spina bifida,...	OMIM:304050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Abnormal clavicle morphology, Abnormal epiphysis morphology, Abnorma...	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iig	Posterior rib gap, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femora...	OMIM:611209
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Cyanosis, Death...	OMIM:617478
Kyphomelic Dysplasia	Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Bowing of the l...	ORPHA:1801
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Abnormal heart morphology, Abnormal aortic valve morphology, Rib f...	ORPHA:261197
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Kyphosis, Sacral dimple, Truncus arteriosus, V...	OMIM:609029
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Coarctation of aorta, Ethmoidal encephalocele, Abnormal rib morpho...	ORPHA:280195
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Pat...	OMIM:617516
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Ventricular septal de...	ORPHA:1507
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Short neck, Transposition of the great arteries, Clinodactyly, Patent foramen ovale	OMIM:616789
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect, Brachydactyly, Scoliosis, S...	OMIM:619995
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Truncus arteriosus, Ventricular septal def...	ORPHA:3426
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Atrial septal defect, Abnorm...	ORPHA:2475
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Acrocyanosis, Death in childhood, Short finger	OMIM:302000
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Isolated Hemihyperplasia	Myelomeningocele, Scoliosis, Asymmetry of the thorax	ORPHA:2128
Ververi-Brady Syndrome	Clinodactyly of the 5th finger, Metaphyseal irregularity, Scoliosis, Transposition of the great a...	OMIM:617982
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Aicardi Syndrome	Block vertebrae, Small hand, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, B...	ORPHA:50
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Meacham Syndrome	Hypoplastic left heart, Death in infancy, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc...	OMIM:608978
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Abnormal sternum morphology, Umbilical hernia, Camptodactyly of finger, Abnorm...	ORPHA:2990
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra...	OMIM:208530
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Tran...	ORPHA:1780
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atri...	OMIM:253800
Noonan Syndrome 12	Tetralogy of Fallot, 11 pairs of ribs, Ventricular septal defect, Pectus excavatum, Spinal canal ...	OMIM:618624
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Cutis marmorata, Aplasi...	OMIM:615297
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Narrow chest, Thoracic hypoplasia, Short femoral neck, Proximal femoral metaphysea...	OMIM:602271
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical...	OMIM:600001
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,...	ORPHA:2008
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Neonatal death, Ventricular septal defect, Holoprosen...	OMIM:146510
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Broad clavicles, Abnormal form of the vertebral bodies, Carpal osteolysis, Osteolysis involving t...	ORPHA:371428
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ...	OMIM:271520
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scolios...	OMIM:214300
1P36 Deletion Syndrome	Dilated cardiomyopathy, Kyphosis, Camptodactyly of finger, Abnormal heart valve morphology, Tetra...	ORPHA:1606
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior...	ORPHA:244
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Tetralogy of Fallot, Cyanosis, 2-3 toe syndactyly, Persistent left superior ven...	ORPHA:3304
Desbuquois Syndrome	Small hand, Camptodactyly of finger, Bell-shaped thorax, Abnormal metaphysis morphology, Ventricu...	ORPHA:1425
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Missing ribs, Dextrocardia, Meningo...	ORPHA:1759
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Sandal gap, Cutaneous photosensitivity, Sprengel anomaly, ...	ORPHA:2180
Cooper-Jabs Syndrome	Umbilical hernia, Camptodactyly of finger, Abnormal hip bone morphology, Ventricular septal defec...	ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Metaphyseal spurs...	OMIM:608728
Microphthalmia, Syndromic 3	Butterfly vertebrae, Ventricular septal defect, Missing ribs, Supernumerary ribs, Rib fusion, Hem...	OMIM:206900
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Narrow chest, Advanced ossification of carpal bones, Thoraci...	OMIM:269250
Jeune Syndrome	Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho...	ORPHA:474
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl...	OMIM:184250
Distal 22Q11.2 Microdeletion Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San...	ORPHA:261330
Neuralgic Amyotrophy	Sprengel anomaly, Acrocyanosis, Scapular winging, Syndactyly	ORPHA:2901
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Sho...	OMIM:607872
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Advanced tarsal ossification, Sho...	OMIM:215045
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Upper...	ORPHA:93351
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Multiple Pterygium Syndrome, Escobar Variant	Hip dislocation, Ulnar deviation of finger, Anterior clefting of vertebral bodies, Umbilical hern...	OMIM:265000
Short Stature And Facioauriculothoracic Malformations	Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Ventricular septal defect,...	OMIM:609654
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Co...	OMIM:253010
Prune Belly Syndrome	Congenital hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Vertebral segmentatio...	ORPHA:2970
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Coxa vara, Short palm, Flared, irregular rib ends	ORPHA:168555
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Intellectual Developmental Disorder, Autosomal Recessive 73	Clinodactyly of the 5th finger, Scoliosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Pontine Tegmental Cap Dysplasia	Rib fusion, Scoliosis, Hemivertebrae	OMIM:614688
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of the great arteri...	OMIM:619657
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Broad clavicles, Platyspondyly, Irregular acetabular roof, Broad ribs, Thi...	OMIM:619698
Robinow Syndrome	Short distal phalanx of finger, Umbilical hernia, Abnormal heart morphology, Ventricular septal d...	ORPHA:97360
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco...	OMIM:259440
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Aplasia/hypoplasia of the femur, Lo...	ORPHA:2839
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Epiphyseal stippling, Death in infancy, Ventricular septal defect	OMIM:614876
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Femoral bowing, Situs inversus totalis, Trunc...	OMIM:615415
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Spinal canal stenos...	ORPHA:582
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Abnormal...	ORPHA:628
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b...	OMIM:151210
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif...	ORPHA:64754
Cornelia De Lange Syndrome 6	Pectus carinatum, Short 1st metacarpal, Atrioventricular canal defect, Clinodactyly of the 5th fi...	OMIM:620568
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Ventricular septal defect, Bicuspid aortic valve, Left...	OMIM:618619
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil...	ORPHA:2255
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent...	OMIM:601186
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Flared metaphysi...	OMIM:187601
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Dilation of Virchow-Robin spaces, Vascular skin abnormality, Rib fusion, Clinodactyl...	ORPHA:544488
Melnick-Needles Syndrome	Anisospondyly, Narrow chest, Short distal phalanx of finger, Short thorax, Cone-shaped epiphyses ...	ORPHA:2484
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Broad long bones, Short neck, Broad ischia, Anterior...	OMIM:228520
Aortic Arch Interruption	Abnormal heart morphology, Cyanosis, Ventricular septal defect, Truncus arteriosus, Bicuspid aort...	ORPHA:2299
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Thoracic hypopla...	OMIM:187600
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal rib cage morphology, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process...	OMIM:184252
Cog1-Cdg	Posterior rib gap, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Kyphoscoliosis...	ORPHA:263508
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Myelomeningocele, Bell-shaped thorax, Death in infancy, Ventr...	ORPHA:1393
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Scoliosis, Atrial septal defect, Sacral dimple, Ventricular septal defect	OMIM:608227
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal peri...	ORPHA:1335
3M Syndrome	Thin ribs, Congenital hip dislocation, Rocker bottom foot, Abnormal cerebral vascular morphology,...	ORPHA:2616
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal cardiac septum morphology, Abnormal rib morphology	ORPHA:93941
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra...	ORPHA:280
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ventricular septal defect, Short neck, Short hallux, Dysplastic aortic valve, Hyp...	ORPHA:508488
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Neu-Laxova Syndrome 1	Yellow subcutaneous tissue covered by thin, scaly skin, Hydranencephaly, Toe syndactyly, Finger s...	OMIM:256520
Frank-Ter Haar Syndrome	Broad clavicles, Secundum atrial septal defect, Flared metaphysis, Mitral valve prolapse, Ventric...	OMIM:249420
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral valve prolap...	OMIM:142900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r...	ORPHA:2522
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the...	OMIM:148050
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Thoracic Outlet Syndrome	Abnormal rib morphology, Varicose veins	ORPHA:97330
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Abnormal ep...	ORPHA:3474
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Ventricular septal def...	ORPHA:79345
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Brachydactyly, Type B1	Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Cutaneou...	OMIM:113000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Metaphyseal irregularity, Short femoral neck, Narrow vertebral interped...	OMIM:618395
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Monkey wrench femoral neck, Genu valgum, Butterfly vertebrae, Pat...	OMIM:618870
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba...	OMIM:223800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Thoracic hypoplasia, Thoracic dysplasia, Bell-shaped thorax, Genu valgum, Ventricular septal defe...	OMIM:615630
Fliedner-Zweier Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hallux valgus, Meningocele, Pectus excavatum, H...	OMIM:620511
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Lymphangiectasia, Intestinal	Prominent floating ribs, Stillbirth, Intestinal lymphangiectasia	OMIM:152800
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Carpal synostosis, Muscular ventricular septal defect, Tarsal synostosis, ...	OMIM:157800
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Absence of the sacrum, Atrioventricular canal defect, De...	OMIM:270100
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Umbilical hernia,...	ORPHA:1517
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf...	ORPHA:980
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il...	OMIM:300863
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Short neck, Abnormal rib morphology	ORPHA:2578
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Finger syndactyly, Tetralogy of Fallot, Atrioventr...	ORPHA:7
Achondrogenesis Type 1B	Narrow chest, Abnormal rib morphology, Umbilical hernia, Short neck, Short thorax, Short foot	ORPHA:93298
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear...	OMIM:230500
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv...	ORPHA:3097
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Spreng...	OMIM:618223
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Cervical ribs, Tetralogy of Fallot, Tibial torsion, Fibular aplas...	ORPHA:3320
Mosaic Trisomy 14	Short neck, Narrow chest, Camptodactyly of finger, Abnormal rib morphology	ORPHA:1703
Camptodactyly Syndrome, Guadalajara Type 1	Pectus carinatum, Narrow chest, Toe syndactyly, Short distal phalanx of finger, Abnormal form of ...	ORPHA:1327
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic...	OMIM:618164
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Scoliosis, Patent...	OMIM:616276
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Radioulnar synostosis, Abnormal metac...	ORPHA:2319
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida...	ORPHA:2476
Fountain Syndrome	Short distal phalanx of finger, Erythema, Coarse metaphyseal trabecularization, Abnormal form of ...	ORPHA:3219
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Abnormal rib morphology, Ventricular septal defect	ORPHA:2772
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect	ORPHA:1918
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb...	ORPHA:52
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas...	ORPHA:2911
Feingold Syndrome Type 2	Toe syndactyly, Short thumb, Ventricular septal defect, Brachydactyly, Short middle phalanx of fi...	ORPHA:391646
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
22Q11.2 Deletion Syndrome	Ventricular septal defect, Arachnodactyly, Short neck, Atrial septal defect, Foot polydactyly, Pu...	ORPHA:567
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal hip bone morphology, Abnormal aortic morphology, Vertebral segmenta...	ORPHA:1166
Thoracoabdominal Syndrome	Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar...	OMIM:313850
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop...	ORPHA:163966
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu...	OMIM:605376
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, C...	ORPHA:3082
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, 2-3 toe s...	ORPHA:477817
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Overlapping fingers, Butterfly vertebrae, Ventricular septal defect, ...	OMIM:301056
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Bicuspid aortic valve, Short neck, Atrial septal defect, Patent duc...	OMIM:612474
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Ventricular sep...	ORPHA:254534
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Ventricular sep...	OMIM:617895
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Ventricular septal defect, Hydrocephalus, Hemive...	ORPHA:77298
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal defect, Broad toe, S...	OMIM:312870
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Smal...	OMIM:602111
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal defect, Pectus ...	OMIM:615279
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec...	OMIM:614326
Restrictive Dermopathy	Thin ribs, Camptodactyly of finger, Small placenta, Increased anterioposterior diameter of thorax...	ORPHA:1662
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Spinal Muscular Atrophy, Type I	Atrial septal defect, Death in childhood, Ventricular septal defect	OMIM:253300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology	ORPHA:2234
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Ventricular se...	OMIM:614815
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology...	OMIM:249670
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Clinodactyly, Broad 2nd toe, Umbilical hernia, Tetralogy of...	OMIM:280000
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, S...	OMIM:252900
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b...	OMIM:182940
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Radioulnar synostosis, Short hallux, Atrial septal defect, Hip disloca...	OMIM:194190
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Atrial septal def...	ORPHA:2519
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Abnormal metaphysis morphology, Bowing of the long bones, ...	ORPHA:2050
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Coarctation of aorta, Right aortic arch, Supraumbilical raphe	OMIM:140850
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, H...	ORPHA:2347
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Finger syndactyly, Tetralogy of Fallot, Situs inversus totalis, Encephalocele,...	ORPHA:1908
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m...	ORPHA:3035
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ...	OMIM:620073
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ...	OMIM:613759
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Pectus carinatum, Aortic root aneurysm, Ventricular septal defect, Arachnodactyly, Atrial septal ...	OMIM:301039
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Scoliosi...	OMIM:601357
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process,...	OMIM:300232
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Scoliosis, Cyanosis	ORPHA:98913
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn...	OMIM:118100
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Atrial septa...	OMIM:603387
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, Short nec...	ORPHA:1486
Achondrogenesis Type 1A	Narrow chest, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax, Short foot, Sho...	ORPHA:93299
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Truncus arteriosus, Abno...	ORPHA:2538
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Carpal s...	ORPHA:93320
Zttk Syndrome	Small hand, Kyphosis, Cervical ribs, Ventricular septal defect, Rib fusion, Atrial septal defect,...	OMIM:617140
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Encephalocele, Bowing of the long...	ORPHA:90652
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Scoliosis	OMIM:615220
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Encephalocele	ORPHA:217
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Abnormal heart ...	OMIM:276950
Carpenter Syndrome 2	Broad thumb, Cutaneous finger syndactyly, Short neck, Atrial septal defect, Dextrocardia, Patent ...	OMIM:614976
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of...	ORPHA:2097
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Craniodiaphyseal Dysplasia, Autosomal Dominant	Death in adolescence, Thickened ribs, Diaphyseal sclerosis	OMIM:122860
Contractural Arachnodactyly, Congenital	Pectus carinatum, Ulnar deviation of finger, Aortic root aneurysm, Congenital kyphoscoliosis, Mit...	OMIM:121050
Trisomy 13	Narrow chest, Abnormal pelvic girdle bone morphology, Kyphosis, Ectrodactyly, Ventricular septal ...	ORPHA:3378
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia, Cervical ribs	ORPHA:66630
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Cyanosis, Po...	ORPHA:2886
Lethal Congenital Contracture Syndrome 10	Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiom...	OMIM:617022
Baller-Gerold Syndrome	Abnormal vertebral morphology, Erythema, Carpal synostosis, Patellar aplasia, Aphalangy of the ha...	OMIM:218600
Hemihyperplasia, Isolated	Myelomeningocele, Scoliosis	OMIM:235000
Fibrochondrogenesis	Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal diaphysis mor...	ORPHA:2021
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Thoracic hemiverte...	OMIM:301043
Down Syndrome	Atlantoaxial instability, Shallow acetabular fossae, Clinodactyly, Sandal gap, Tetralogy of Fallo...	OMIM:190685
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Missing ribs, Arachnodactyly, Hemivertebrae, Abnormal rib ...	ORPHA:2759
Achondrogenesis, Type Ia	Broad clavicles, Hypoplastic scapulae, Narrow chest, Unossified vertebral bodies, Short thorax, H...	OMIM:200600
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B...	OMIM:271640
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ...	ORPHA:2369
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Neonatal death, Ventricular septal defect, Short neck, Short foot, Holopros...	OMIM:269860
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Broad ribs, Genu valgum, Short neck, Abnor...	ORPHA:583
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Cyanosis, Hydrocephalus, Spina bifida	OMIM:207950
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Atrial septal defect,...	OMIM:250220
Caudal Duplication	Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spina bifida, Abnormal sacrum morp...	ORPHA:1756
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov...	OMIM:253200
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Abnormal thorax morphology, Communicating hydrocephalus, Patent ductus arter...	ORPHA:2184
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Toe syndactyly, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Enlarged Parietal Foramina	Broad thumb, Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral ve...	ORPHA:60015
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Atrial sept...	OMIM:608149
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Cyanosis, Bowing of the long bones, Postaxia...	OMIM:619879
Lateral Meningocele Syndrome	Kyphosis, Umbilical hernia, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid aorti...	OMIM:130720
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl...	OMIM:215140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Thoracic hypoplasia, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fib...	OMIM:616897
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, 2-3 finger syndactyly, T...	ORPHA:2437
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu...	ORPHA:93352
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Broad thumb, Umbilical hernia, Clinodactyly of the 5th finger, Patent foramen ova...	ORPHA:329224
Cleidocranial Dysplasia	Hypoplastic scapulae, Narrow chest, Hypoplastic inferior ilia, Abnormal pelvic girdle bone morpho...	ORPHA:1452
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Spina bifida, Mitral valve prolapse	OMIM:211960
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Umbilical hernia, Ventricular septal defect, Short neck, H...	ORPHA:2789
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, 11 pairs of ribs, Complete atrioventricular canal defect, Encephaloce...	OMIM:264480
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Noonan Syndrome 8	Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar...	OMIM:615355
Hurler Syndrome	Abnormal vertebral morphology, Abnormal clavicle morphology, Abnormal epiphysis morphology, Cardi...	ORPHA:93473
Bent Bone Dysplasia Syndrome 2	Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ...	OMIM:620076
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Scoliosis, Thoracic ...	OMIM:619542
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Sandal gap, Ventricular septal defect, Bicuspid aortic valve, Double outlet...	OMIM:616652
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect	OMIM:614886
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Umbilical hernia, Tetralogy of Fallot, Clinodactyly of the 5th finger, Patent...	OMIM:612582
Global Developmental Delay With Or Without Impaired Intellectual Development	Pectus excavatum, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618330
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology	ORPHA:2643
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Campomelia, Cumming Type	Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Brachyd...	ORPHA:1318
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Capitate-hamate fusion, Hypoplastic i...	OMIM:225500
Primary Non-Essential Cutis Verticis Gyrata	Scoliosis, Atrial septal defect, Ventricular septal defect	ORPHA:357225
Tetrasomy 5P	Overlapping toe, Clinodactyly of the 5th finger, Cyanosis, Short neck, Short hallux, Hydrocephalu...	ORPHA:3309
Congenital Heart Block	Endocardial fibroelastosis, Cyanosis, Patent foramen ovale, Pericardial effusion, Patent ductus a...	ORPHA:60041
Oculoauriculofrontonasal Syndrome	Scoliosis, Encephalocele, Ventricular septal defect	ORPHA:398156
Triploidy	Narrow chest, Finger syndactyly, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, M...	ORPHA:3376
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,...	ORPHA:958
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Thickened ribs	OMIM:252920
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short r...	OMIM:615503
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Cardiomyopathy, Broad ribs, Irregular carpal bones, Spondylolisthesis,...	OMIM:252600
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Death in childhood, Ventricular s...	OMIM:612938
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Vertebral segmenta...	ORPHA:1834
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Pectus carinatum, Cervical spinal canal stenosis, Carpal synostosis, Cutaneous finger syndactyly,...	OMIM:178110
Mosaic Trisomy 9	Hip dislocation, Finger clinodactyly, Camptodactyly of finger, Abnormal heart valve morphology, E...	ORPHA:99776
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of lumbar vertebrae...	OMIM:253220
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Postaxial hand polydactyly, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal...	ORPHA:83473
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Fibular Hemimelia	Toe syndactyly, Short tibia, Finger syndactyly, Fibular aplasia, Genu valgum, Disproportionate pr...	ORPHA:93323
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Internally rotated shoulders, Reduced subcutaneous adipose tissue, Hip contracture, Ven...	OMIM:619503
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
ERI1-related disease	Platyspondyly, Pectus carinatum, Narrow chest, Abnormal heart morphology, Slender metacarpals, Ol...	OMIM:608739
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent...	OMIM:615996
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Asymmetric septal hyp...	OMIM:252930
Buerger Disease	Vasculitis, Livedo reticularis, Acrocyanosis	ORPHA:36258
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Bowing of the long bones, Hydrocephalus, Atrial septal ...	OMIM:611134
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr...	ORPHA:93317
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Irregular femoral epiphysis, Hip contracture, Ventricular s...	OMIM:616651
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordo...	OMIM:612921
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect	ORPHA:2515
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial septal defect, Diaphyseal under...	OMIM:620663
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Short finger, Hypoplastic heart, Vertebral fusion, Abnormal cervical curvature	OMIM:312150
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Trisomy 1Q	Toe syndactyly, Abnormal rib morphology, Preaxial hand polydactyly, Camptodactyly of finger, Vent...	ORPHA:261344
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Cyanosis	OMIM:263000
Nail-Patella Syndrome	Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Lumbar hyperlordosis, Clinodactyl...	OMIM:161200
Mmep Syndrome	Triphalangeal thumb, Split foot, Ventricular septal defect	ORPHA:3434
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Situs inversus...	ORPHA:991
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Lambert Syndrome	Jaundice, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Osteogenesis Imperfecta, Type X	Thin ribs, Platyspondyly, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum, Fibular bow...	OMIM:613848
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo...	ORPHA:85167
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro...	ORPHA:2326
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Ventricular septal defect, Spren...	OMIM:612562
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Finger syndact...	ORPHA:3258
Larsen Syndrome	Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Accessory car...	OMIM:150250
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Facial telangiectasia, Contracture of the proximal interphalangeal joint of the...	OMIM:620141
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Sacral dimple, Overlapping toe, Coronary artery atherosclerosis, Ventr...	ORPHA:435638
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones...	OMIM:617952
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Short neck, Atri...	OMIM:617452
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Intellectual Developmental Disorder, Autosomal Recessive 79	Slender finger, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th fi...	OMIM:620393
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Maternal Phenylketonuria	Hypoplastic left heart, Clinodactyly, Tetralogy of Fallot, Abnormal heart morphology, Ventricular...	ORPHA:2209
Restrictive Dermopathy 2	Short clavicles, Cyanosis, Overtubulated long bones	OMIM:619793
Congenital Pulmonary Lymphangiectasia	Cyanosis, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p...	OMIM:212093
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology, Abnormal heart morphology, Situs inversus to...	ORPHA:1666
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Ventricular septal defect, Short clavicles, Coarctation of aorta, Tapered fi...	OMIM:617159
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Focal Dermal Hypoplasia	Erythema, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiph...	ORPHA:2092
Dysosteosclerosis	Platyspondyly, Short diaphyses, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ...	OMIM:224300
Asbestos Intoxication	Cor pulmonale, Oxygen desaturation on exertion, Myocardial fibrosis, Cyanosis, Hypoxemia, Clubbin...	ORPHA:2302
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyp...	OMIM:277600
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Cyanosi...	ORPHA:2257
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Short finger, Hypoplastic heart, Vertebral fusion, Abnormal cervical curvature	OMIM:253290
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va...	OMIM:305620
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Pectus carinatum, Tetralogy of Fallot, Cutis marmorata, 2-3 toe syndactyly, Radioulnar synostosis...	OMIM:614701
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Pectus carinatum, Umbilical hernia, Genu valgum, Mitral valve prolapse, Minimal subcut...	OMIM:182212
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Narrow chest, Bruising susceptibility, Multiple rib fractures, Bowing of the long ...	OMIM:616229
Pericardial And Diaphragmatic Defect	Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmatic absence of pericard...	ORPHA:2847
Spondylo-Ocular Syndrome	Platyspondyly, Ventricular septal defect, Short neck, Abnormal intervertebral disk morphology, Th...	ORPHA:85194
Wildervanck Syndrome	Meningocele, Fused cervical vertebrae, Short neck	ORPHA:3456
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Hypophosphatasia	Bowing of the long bones, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology	ORPHA:436
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Pectus carinatum, Abnormal cerebral vascular morphology, Premature skin wr...	ORPHA:363705
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Slender metacarpals, Coxa valga, Ovoid...	OMIM:620601
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cutis marmorata, Polydactyly, Ventricular septal defect, Hydrocephalus, Syndactyly	OMIM:602501
Waardenburg Syndrome Type 1	Premature graying of hair, Sprengel anomaly, Spina bifida, Meningocele, Scoliosis	ORPHA:894
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Sandal gap, Clinodactyly of the 5th finger, Ventricular septal defect, 2-3 toe syndacty...	OMIM:617061
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Osteogenesis Imperfecta, Type Iii	Thin ribs, Slender long bone, Biconcave vertebral bodies, Tibial bowing, Scoliosis, Kyphosis, Pro...	OMIM:259420
Infantile-Onset X-Linked Spinal Muscular Atrophy	Interphalangeal joint contracture of finger, Hip contracture, Kyphoscoliosis, Short ribs, Cupped ...	ORPHA:1145
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular ...	ORPHA:500159
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Genu valgum, Mitral valv...	OMIM:619472
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyanosis, Cardiomegaly, Tricus...	ORPHA:555874
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Abnormal hip bone morphology, Hyperlordosis, Abnormal rib morphology, Clinodact...	ORPHA:3068
Trisomy X	Clinodactyly of the 5th finger, Ventricular septal defect, Atrial septal defect, Hip dysplasia, P...	ORPHA:3375
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs, Coarctation of aorta, Atrial septal defect, Patent ductus ar...	OMIM:614857
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Cervical ribs, Abnormal heart morphology, Transient ischemic att...	ORPHA:500150
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Kyphoscoliosis, Ventr...	OMIM:618348
Grange Syndrome	Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly	ORPHA:79094
Infant Acute Respiratory Distress Syndrome	Cyanosis, Abnormal thorax morphology, Hypoxemia	ORPHA:70587
Cole-Carpenter Syndrome 2	Thin ribs, Platyspondyly, Hydrocephalus, Narrow iliac wing, Pectus excavatum, Kyphosis	OMIM:616294
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly	ORPHA:945
Noonan Syndrome 4	Bruising susceptibility, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pectus excavat...	OMIM:610733
Wolcott-Rallison Syndrome	Jaundice, Double outlet right ventricle, Atrial septal defect, Metaphyseal dysplasia	ORPHA:1667
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Preaxial polydactyly, Occipital meningocele, Short ribs, Postaxi...	OMIM:616546
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Horizontal ribs, Long thora...	OMIM:617925
Renpenning Syndrome	Clinodactyly of the 5th finger, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphol...	ORPHA:3242
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Preaxial...	OMIM:147750
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v...	ORPHA:335
Breath-Holding Spells	Cyanosis	OMIM:607578
Pelger-Huet Anomaly	Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Polydactyly...	OMIM:169400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Bell-shaped thorax, Hypoplastic pelvis, Horizont...	OMIM:616300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Abnormal heart morphology, Overlapping toe, Overlapping fingers, Patent...	OMIM:618494
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Atrial septal d...	ORPHA:896
Jansen-De Vries Syndrome	Small hand, Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Brachydactyly, Short...	OMIM:617450
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Craniosynostosis, Herrmann-Opitz Type	Brachydactyly, Split hand, Finger syndactyly, Abnormal rib morphology	ORPHA:2145
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Sandal gap, Cutis marmorata, Clinodactyly of the 5th finger, Ventricular se...	OMIM:617602
Congenital Myasthenic Syndrome	Spinal rigidity, Pectus carinatum, Congenital hip dislocation, Cyanosis, Kyphoscoliosis, Neuropat...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Spinal rigidity, Pectus carinatum, Congenital hip dislocation, Cyanosis, Kyphoscoliosis, Neuropat...	ORPHA:98914
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Postaxial polysyndactyly...	OMIM:263520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s...	OMIM:613091
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Metaphyseal irregularity, Metaphyseal cupping, Flared metaphysis, Short finger, Fe...	OMIM:608940
Hadziselimovic Syndrome	Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu...	OMIM:612946
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Genu valgum, Barrel-shaped chest, Ventricular sep...	OMIM:143095
Opsismodysplasia	Hypoplastic ischia, Narrow chest, Hypoplasia of the odontoid process, Metaphyseal cupping, Poster...	OMIM:258480
Recombinant 8 Syndrome	Abnormal sternum morphology, Camptodactyly of finger, Tetralogy of Fallot, Clinodactyly of the 5t...	ORPHA:96167
Mosaic Trisomy 16	Short forearm, Clinodactyly, Short thumb, Abnormal heart morphology, Large placenta, Abnormal tho...	ORPHA:1708
Noonan Syndrome 10	Pectus carinatum, Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricula...	OMIM:616564
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Short neck, Pectus excavatum, Scoliosis, Patent ductus arteriosus	ORPHA:52055
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Death in infancy, Ventricu...	OMIM:300514
Double Outlet Left Ventricle	Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary ...	ORPHA:3427
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Thoracic hypoplasia, Small cervical vertebral bod...	ORPHA:397715
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proxim...	OMIM:260400
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Short neck, Cyanotic episode	ORPHA:284417
Fucosidosis	Vascular skin abnormality, Cardiomegaly, Anterior beaking of lumbar vertebrae, Acrocyanosis, Kyph...	ORPHA:349
Charge Syndrome	Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, Holoprosencepha...	OMIM:214800
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan...	OMIM:186500
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Short neck, Brachydactyly, Hip dysplasia, Rocker bo...	OMIM:619762
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Overlapping toe, Ventricular septal defect, Radioulnar synostosis, ...	OMIM:154400
Li-Campeau Syndrome	Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Paten...	OMIM:619189
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Premature graying of hair, Myelomeningocele, Supernumerary ribs, Sprenge...	OMIM:193500
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ...	OMIM:614262
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Osteogenesis Imperfecta	Thin ribs, Aortic root aneurysm, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu val...	ORPHA:666
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Digeorge Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo...	OMIM:188400
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Clubbing of toes, Tetralogy of Fallot, Overlapping toe, Mit...	ORPHA:163956
Aspergillosis	Abnormality of the vertebral column, Abnormal long bone morphology, Stroke, Abnormal rib morpholo...	ORPHA:1163
Duane-Radial Ray Syndrome	Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Absent radius, Short humerus, Ventri...	OMIM:607323
Hyperparathyroidism, Transient Neonatal	Thin ribs, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Undu...	OMIM:618188
Mosaic Trisomy 20	Narrow chest, Clinodactyly, Spinal canal stenosis, Abnormal mitral valve morphology, Dysplastic t...	ORPHA:1724
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Short thumb, Tetralogy of Fallot, Mitral valve prolapse, Ventricular sep...	OMIM:612561
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Neonatal death, Ventricular septal defect	OMIM:615524
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall...	ORPHA:2211
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist...	ORPHA:73230
Chromosome 5Q12 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect, Short neck, Long toe, Atrial septal defect, Long...	OMIM:615668
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Vertebral segmentation defect, Ventricular septal defect, Pectus excavatum, Holoprose...	OMIM:612530
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis	ORPHA:391428
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Umbilical hernia, Spinal canal stenosis, Broa...	OMIM:608328
Anophthalmia Plus Syndrome	Deviation of finger, Spina bifida, Vertebral segmentation defect	ORPHA:1104
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall...	OMIM:300963
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti...	OMIM:601559
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Holzgreve Syndrome	Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morph...	ORPHA:2167
Li-Ghorbani-Weisz-Hubshman Syndrome	Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of the 5th finger,...	OMIM:618974
Microphthalmia, Syndromic 2	Aortic valve stenosis, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Umbilical hernia, ...	OMIM:300166
Intellectual Developmental Disorder, Autosomal Dominant 48	Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Scoliosis, Patent ductus arte...	OMIM:617751
C Syndrome	Hip dislocation, Toe syndactyly, Fused sternal ossification centers, Postaxial foot polydactyly, ...	OMIM:211750
Pseudo-Torch Syndrome 2	Thin ribs, Secundum atrial septal defect, Petechiae, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:617397
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Insulin-Like Growth Factor I, Resistance To	Abnormal rib cage morphology, Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviatio...	OMIM:270450
Lethal Congenital Contracture Syndrome 5	Thin ribs, Subdural hemorrhage, Death in infancy	OMIM:615368
Surfactant Metabolism Dysfunction, Pulmonary, 1	Cyanosis, Death in infancy, Neonatal death, Misalignment of the pulmonary veins, Clubbing	OMIM:265120
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect	OMIM:616277
Dysosteosclerosis	Platyspondyly, Coarse metaphyseal trabecularization, Ventricular septal defect, Hypoplastic verte...	ORPHA:1782
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Scoliosis, Intestinal lymphangiectasia, Umbilical hernia, Hypoplastic iliac wing, Cut...	OMIM:235510
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Loeys-Dietz Syndrome 5	Pectus carinatum, Flexion contracture of toe, Aortic root aneurysm, Bilateral coxa valga, Bruisin...	OMIM:615582
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri...	OMIM:271665
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Abnormal pelvic girdle...	OMIM:250250
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Kyphomelic Dysplasia	Platyspondyly, Thoracic hypoplasia, Radial bowing, Flared metaphysis, Dumbbell-shaped humerus, Fe...	OMIM:211350
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Toe clinodactyly, Toe syndactyly, Abnormal form of...	ORPHA:2308
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand...	ORPHA:1647
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tubular bones ...	ORPHA:85184
Esophageal Atresia	Abnormal vertebral morphology, Clinodactyly, Tetralogy of Fallot, Cyanosis, Ventricular septal de...	ORPHA:1199
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Anomalous rib insert...	OMIM:117650
Monosomy 9Q22.3	Abnormality of the vertebral column, Umbilical hernia, Cardiac fibroma, Polydactyly, Short neck, ...	ORPHA:77301
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Toe syndactyly, Broad thumb, Overlapping toe, Ventricular septal defect, Arachnodactyly, Short ne...	ORPHA:505237
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypop...	ORPHA:3186
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Missing ribs, Hydrocephalus, Abnormal rib morphology, Ab...	ORPHA:3301
Osteogenesis Imperfecta, Type Viii	Thin ribs, Platyspondyly, Radial bowing, Slender long bone, Femoral bowing, Barrel-shaped chest, ...	OMIM:610915
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Rocker bottom foot, Ventricular septal defect	OMIM:618506
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Stenosis of the medullary cavity of the long bones, Cortical thickening of...	ORPHA:93324
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ...	OMIM:618142
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Holoprosencephaly 14	Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle, Aortic valve ...	OMIM:619895
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Short neck, Atria...	OMIM:609945
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti...	ORPHA:95430
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib...	ORPHA:2769
Steinfeld Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal heart morphology, Mi...	OMIM:184705
Osteogenesis Imperfecta, Type Vii	Narrow chest, Absent pulmonary artery, Crumpled long bones, Death in infancy, Multiple rib fractu...	OMIM:610682
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Death in infancy, Brachydactyly, Hydrocephalus	OMIM:602361
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Thin ribs, Thin metatarsal cortices, Thin metacarpal cortices, Slender long...	ORPHA:2463
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul...	OMIM:600987
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, 11 pairs of ribs, Sirenomelia, Clinodactyly of ...	ORPHA:79500
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p...	OMIM:277170
Catel-Manzke Syndrome	Pectus carinatum, Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation o...	OMIM:616145
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect	OMIM:235750
Aase-Smith Syndrome I	Slender finger, Hydrocephalus, Death in infancy, Ventricular septal defect	OMIM:147800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Tetralogy of Fallot...	ORPHA:210122
Mosaic Trisomy 8	Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec...	ORPHA:96061
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis...	OMIM:620067
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Tapered finger, Acrocyanosis, Short finger	ORPHA:1867
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Broad ribs, Long hallux, Broad...	OMIM:600002
Atelis Syndrome 1	Lumbar kyphosis, Atrial septal defect, Ventricular septal defect	OMIM:620184
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Cyanosis, Pulmonary arteriove...	ORPHA:2038
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular sept...	ORPHA:369891
Weill-Marchesani Syndrome	Aortic valve stenosis, Short thumb, Ventricular septal defect, Brachydactyly, Pulmonic stenosis	ORPHA:3449
Koolen-De Vries Syndrome	Slender finger, Hip dislocation, Aortic root aneurysm, Kyphosis, Prominent fingertip pads, Sacral...	OMIM:610443
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Campto...	OMIM:619980
Trisomy 18	Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Ventricular septal de...	ORPHA:3380
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Situs inversus totalis	OMIM:614833
Constricting Bands, Congenital	Abnormal rib cage morphology, Encephalocele, Hand polydactyly, Ectopia cordis, Scoliosis, Syndactyly	OMIM:217100
8Q12 Microduplication Syndrome	Short foot, Atrial septal defect, Ventricular septal defect	ORPHA:228399
Schwartz-Jampel Syndrome	Genu valgum, Hip contracture, Bowing of the long bones, Short neck, Sprengel anomaly, Protrusio a...	ORPHA:800
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Osteopathia Striata With Cranial Sclerosis	Thoracolumbar kyphosis, Osteopathia striata, Broad ribs, Fibular aplasia, Clinodactyly of the 5th...	OMIM:300373
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se...	OMIM:263630
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Narrow chest, Broad clavicles, Bruising susceptibility, Broad ri...	OMIM:304150
Intellectual Developmental Disorder, Autosomal Dominant 72	Short neck, Spina bifida	OMIM:620439
Acrorenal-Mandibular Syndrome	Thin ribs, Narrow chest, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Long clavicles, Short foot, Thin clavicles, Short palm	OMIM:244460
Nestor-Guillermo Progeria Syndrome	Thin ribs, Progeroid facial appearance, Atherosclerosis, Left atrial enlargement, Prominent super...	OMIM:614008
Tyshchenko Syndrome	Narrow chest, Ventricular septal defect, Atrial septal defect, Pectus excavatum, Pulmonic stenosis	OMIM:615102
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
De Barsy Syndrome	Congenital hip dislocation, Progeroid facial appearance, Prominent veins on trunk, Umbilical hern...	ORPHA:2962
Congenital Rubella Syndrome	Ventricular septal defect, Atrial septal defect, Jaundice, Abnormal metaphysis morphology, Patent...	ORPHA:290
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Metatarsus...	ORPHA:2215
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn...	OMIM:620025
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Short neck, Thoracolumbar scoliosis, Pectus excavatum, Patent ductus a...	OMIM:300472
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Small hand, Hip dislocation, 2-3 toe cut...	ORPHA:1596
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Craniometadiaphyseal Dysplasia	Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Scoliosis, Genu varum, Coxa valga	OMIM:269300
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Bifid thoracic vertebrae, Absent...	OMIM:105650
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Kyphosis, Scoliosis, Atrial septal defect, Ventricular septal defect	ORPHA:261190
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Short ne...	ORPHA:251014
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Death in childhood, Hip contracture, Ventri...	OMIM:210710
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Ventricular septal defect, Short neck, Atrial sep...	ORPHA:373
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Joint contracture of the 5th finger, Long fingers, Clinodactyly of the 5th finger, Acrocyanosis, ...	OMIM:614407
Tatton-Brown-Rahman Syndrome	Umbilical hernia, Scoliosis, Atrial septal defect, Ventricular septal defect	OMIM:615879
Mosaic Trisomy 1	Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptodactyly of finger, Thoracic scoliosis, ...	ORPHA:1692
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Atrioventricula...	OMIM:600373
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Barrel-shaped chest, Ventricular septal defect, Kyphos...	OMIM:259770
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Brachydactyly, Clinodactyly o...	ORPHA:3306
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
19P13.3 Microduplication Syndrome	Clinodactyly, Kyphoscoliosis, Ventricular septal defect, Long fingers, Hip dysplasia, Hip subluxa...	ORPHA:447980
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Broad femoral neck, Thickened cortex of long bones, Short neck, Abnormal rib morpholo...	ORPHA:488434
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Death in childhood, Ventricular sep...	OMIM:602535
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular septal defect, Clinodactyly of ...	OMIM:620113
Alg3-Cdg	Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the d...	ORPHA:79321
Alagille Syndrome 1	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal ...	OMIM:118450
Gm1 Gangliosidosis	Platyspondyly, Kyphosis, Abnormal form of the vertebral bodies, Cardiomyopathy, Cherry red spot o...	ORPHA:354
Pyknoachondrogenesis	Unossified sacrum, Short iliac bones, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Apl...	ORPHA:3003
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Finger syndactyly, Umbilical hernia, Preaxi...	ORPHA:261318
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn...	OMIM:601005
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic ...	OMIM:618027
Noonan Syndrome 9	Short neck, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Myhre Syndrome	Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, Overlap...	OMIM:139210
Chromosome 17P13.1 Deletion Syndrome	Broad hallux, Umbilical hernia, Long hallux, Arachnodactyly, Short neck, Tapered finger, Hallux v...	OMIM:613776
Noonan Syndrome 2	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septa...	OMIM:605275
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Ventricula...	ORPHA:404440
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, ...	ORPHA:464738
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot...	OMIM:269500
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Hypoxemia, Clubbing, Foam cells	ORPHA:747
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Ventricular septal defect, Short neck, Atrial se...	ORPHA:254346
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Giant Cell Arteritis	Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
Kapur-Toriello Syndrome	Short thumb, Camptodactyly of finger, Overlapping fingers, Ventricular septal defect, Clinodactyl...	OMIM:244300
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Hypo...	ORPHA:2256
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Intr...	OMIM:614424
Myhre Syndrome	Platyspondyly, Abnormal epiphysis morphology, Abnormal pubic bone morphology, Brachydactyly, Abno...	ORPHA:2588
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Ventricular septal defect, 2-3 toe syndactyly, Atrial septal defect, Scoliosis,...	OMIM:616449
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Ventricular septal defect	OMIM:272440
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Cutaneous finger syndactyly, Genu valgum, Patellar aplasia, Aplasia/Hypopl...	OMIM:224690
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Loeys-Dietz Syndrome 1	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Atrial septal...	OMIM:609192
Lambotte Syndrome	Preaxial foot polydactyly, Semilobar holoprosencephaly, Ventricular septal defect	OMIM:245552
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Atrioventricular canal defect, Horizontal ribs, Short ribs, ...	OMIM:617088
Intellectual Developmental Disorder, Autosomal Dominant 47	Scoliosis, Ventricular septal defect	OMIM:617635
Radio-Renal Syndrome	Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius, Brachydactyly, Abnor...	ORPHA:3015
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Clinodactyly of the 5th...	ORPHA:193
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Cutis marmorata, Ventricular septal defect, Short ...	ORPHA:818
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Slende...	OMIM:234100
Chromosome 9P Deletion Syndrome	Sandal gap, Ventricular septal defect, Clinodactyly of the 5th toe, Short neck, Perimembranous ve...	OMIM:158170
Warsaw Breakage Syndrome	Tetralogy of Fallot, Cutis marmorata, Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly...	OMIM:613398
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Contract...	OMIM:617201
X-Linked Hypophosphatemia	Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m...	ORPHA:89936
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyper...	OMIM:151050
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Narrow chest, Pancreatic lymphangiectasis, Death in infancy, Ventricular septal defect, Thyroid l...	OMIM:235255
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Slender long bone, Cervical ribs, Prematurely aged app...	OMIM:601812
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Death in infancy, Neonatal death	OMIM:300219
Acute Interstitial Pneumonia	Pericardial effusion, Hypoxemia, Cyanosis	ORPHA:79126
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Long hallux, Arachnodactyly, Dislocated radial...	OMIM:600920
Atrial Septal Defect, Coronary Sinus Type	Transient ischemic attack, Anomalous origin of the left common carotid artery from the main pulmo...	ORPHA:99104
Pulmonary Capillary Hemangiomatosis	Cyanosis, Abnormal pulmonary vein morphology, Pericardial effusion, Hypoxemia, Clubbing of fingers	ORPHA:199241
Fanconi Anemia, Complementation Group I	Absent thumb, Short 1st metacarpal, Short thumb, Patent foramen ovale, Ventricular septal defect,...	OMIM:609053
Trigonocephaly With Short Stature And Developmental Delay	Clinodactyly of the 5th finger, Ventricular septal defect	OMIM:314320
Transaldolase Deficiency	Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of aorta, Short neck...	OMIM:606003
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Abnormal rib morphology, N...	ORPHA:83
Congenital Disorder Of Glycosylation, Type Iia	Abnormal rib cage morphology, Slender long bone, Ventricular septal defect, Short neck, Pectus ex...	OMIM:212066
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Toe syndactyly, Absence of the pulmonary valve, Umbilical hernia, Proximal...	OMIM:601808
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Patent ...	OMIM:613870
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Finger syndactyly, Split hand, Abnormal rib morphology, Scoliosis	ORPHA:1300
Kapur-Toriello Syndrome	Tetralogy of Fallot, Short neck, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2328
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu...	OMIM:618652
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Ventricular septal defect	ORPHA:3369
Trisomy 8Q	Camptodactyly of finger, Myelomeningocele, Long thorax, Short neck, Brachydactyly	ORPHA:1752
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura	OMIM:225750
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Apert Syndrome	Delayed epiphyseal ossification, Pectus carinatum, Broad distal phalanx of the thumb, Broad thumb...	OMIM:101200
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Tapered toe, Shoulder flexion contracture, Thoracic hypoplasia, Slender long bone, Hip...	OMIM:620369
Marfan Syndrome	Arterial dissection, Pectus carinatum, Aortic root aneurysm, Aortic dissection, Pulmonary artery ...	ORPHA:558
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Short long bone, Short...	ORPHA:370930
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal morphology of the radius, Abnor...	ORPHA:249
Marden-Walker Syndrome	Pectus carinatum, Abnormal form of the vertebral bodies, Camptodactyly of finger, Situs inversus ...	ORPHA:2461
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect...	ORPHA:46627
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Umbilical...	ORPHA:287
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Aortic dissection, Arterial calcification, Medial calcification of large...	ORPHA:51608
Koolen-De Vries Syndrome Due To A Point Mutation	Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve, Ectodermal dysplasia, Atrial se...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve, Ectodermal dysplasia, Atrial se...	ORPHA:363958
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Ventricular septal...	OMIM:619727
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Atrial septal ...	OMIM:614576
Meckel Syndrome, Type 2	Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An...	OMIM:603194
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Short neck, Spina bifida, Rocker bottom foot, Scoliosis	OMIM:616038
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hydrocephalus, Anterior sacral ...	OMIM:600145
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes...	OMIM:610655
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Thiamine-Responsive Megaloblastic Anemia Syndrome	Stroke, Atrial septal defect, Ventricular septal defect	ORPHA:49827
Developmental And Epileptic Encephalopathy 66	Clinodactyly of the 5th finger, Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Telangiectasia, Hereditary Hemorrhagic, Type 1	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Telangiectasia, Clubbing, Arteriove...	OMIM:187300
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebral bodies, Short ne...	OMIM:252940
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Brachydactyly, Camptodactyly, Clinodact...	OMIM:619123
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Hip dysplasia, Scoliosis, Ventricular septal defect	ORPHA:494344
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis	ORPHA:3265
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Brachydactyly	OMIM:618265
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Transient ischemic atta...	ORPHA:183
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Clinodactyly, Ventricular septal defect, Atrial septal defect, Camptodactyly, Spina bifida occult...	OMIM:617360
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis	ORPHA:330012
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Prominent sternum, Flexio...	ORPHA:254528
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Erythema, Purpura, Acrocyanosis, Urticaria	ORPHA:343
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, H...	OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Dilation of Virchow-Robin spaces, Con...	OMIM:300998
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect	OMIM:249270
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Coarctation of aorta, Ventricular septal defect	OMIM:620210
Poems Syndrome	Sclerotic vertebral endplates, Metaphyseal sclerosis, Plethora, Pericardial effusion, Acrocyanosi...	ORPHA:2905
Atrial Septal Defect, Ostium Primum Type	Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Left atrial enlargement, Left ventricula...	ORPHA:99106
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc...	OMIM:601927
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Umbilical hernia, Avascular ...	ORPHA:581
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Abnormal mitral valve...	ORPHA:740
Cerebellofaciodental Syndrome	Slender long bone, Proximal femoral epiphysiolysis, Genu valgum, Mitral valve prolapse, Ventricul...	OMIM:616202
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arach...	ORPHA:95699
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Ulnar-Mammary Syndrome	Pectus carinatum, Short distal phalanx of finger, Abnormal clavicle morphology, Camptodactyly of ...	ORPHA:3138
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity...	OMIM:614437
Hajdu-Cheney Syndrome	Foot acroosteolysis, Umbilical hernia, Tall lumbar vertebral bodies, Dislocated radial head, Genu...	OMIM:102500
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Death in infancy, Meningocele	ORPHA:2481
Iniencephaly	Spinal dysraphism, Absent vertebra, Rocker bottom foot, Myelomeningocele, Encephalocele, Hydrocep...	ORPHA:63259
Noonan Syndrome 3	Pectus carinatum, Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ve...	OMIM:609942
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
3Mc Syndrome 1	Short 5th finger, Caudal appendage, Clinodactyly of the 5th finger, Ventricular septal defect, Co...	OMIM:257920
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Pontocerebellar Hypoplasia, Type 8	Scoliosis, Patent foramen ovale, Ventricular septal defect	OMIM:614961
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Craniofacioskeletal Syndrome	Interrupted aortic arch, Small hand, Barrel-shaped chest, Ventricular septal defect, Atrial septa...	OMIM:300712
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Oculodentodigital Dysplasia	Toe syndactyly, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Finger synda...	ORPHA:2710
Hajdu-Cheney Syndrome	Aortic valve stenosis, Pectus carinatum, Short distal phalanx of finger, Kyphosis, Coarse metaphy...	ORPHA:955
Neurofibromatosis, Type I	Renal artery stenosis, Genu valgum, Tibial pseudarthrosis, Hydrocephalus, Spina bifida, Aqueducta...	OMIM:162200
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Kyphosis, Clinodactyly, Patent foramen ovale, Ventricular septal defect, Short phala...	OMIM:616894
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Radial deviation of finger, Umbilical hernia, Ventricular septal defect, Kyphoscoli...	OMIM:301040
Sotos Syndrome	Long metacarpals, Muscular ventricular septal defect, Genu valgum, Ventricular septal defect, Lon...	OMIM:117550
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Kagami-Ogata Syndrome	Thoracic hypoplasia, Bell-shaped thorax, Large placenta, Kyphoscoliosis, Short neck, Coat hanger ...	ORPHA:254519
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di...	ORPHA:3282
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis, Clubbing of fingers	ORPHA:2032
Teebi-Shaltout Syndrome	Aortic valve stenosis, Pectus carinatum, Caudal appendage, Ventricular septal defect, Metatarsus ...	OMIM:272950
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Ventricular septal defect, Short neck, Abnormal cardiac septum morpholog...	OMIM:614294
Ogden Syndrome	Pulmonary artery stenosis, Scoliosis, Broad hallux, Ventricular septal defect	ORPHA:276432
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Mgat2-Cdg	Kyphosis, Abnormal heart morphology, Ventricular septal defect, Brachydactyly, Pectus excavatum, ...	ORPHA:79329
Jacobsen Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Missing ribs, Short neck, Hydrocephalu...	OMIM:147791
Delpire-Mcneill Syndrome	Hip dislocation, Ventricular septal defect	OMIM:619083
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Miscarriage	ORPHA:169189
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Clinodactyly, Patent foramen ovale, Ventricular septal defect, At...	OMIM:614261
Suleiman-El-Hattab Syndrome	Clinodactyly, Patent foramen ovale, Polydactyly, Ventricular septal defect, Atrial septal defect,...	OMIM:618950
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Hip dysplasia, Jaundice, Right ventricular hypertrophy	OMIM:613404
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Cutis marmorata, Lumbar kyphosis, Short metacarpal, Drumstick te...	OMIM:303600
Necrotizing Enterocolitis	Abnormal heart morphology, Cyanosis	ORPHA:391673
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Flaring of rib cage, Fused cervical vertebrae	OMIM:612852
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ventricular septal defect, Postaxial...	OMIM:174300
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
X Small Rings	Toe syndactyly, Aortic root aneurysm, Upper limb undergrowth, Mitral stenosis, Lower limb undergr...	ORPHA:96201
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs	ORPHA:456328
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Atr...	ORPHA:84
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Bell-shaped thorax, Ventricular septal defect, Coarctation of aorta, ...	OMIM:244450
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Bruising susceptibility, Abnormal pulmonary valve mo...	ORPHA:667
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect	OMIM:126320
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Cardiomyopathy	ORPHA:159
Donnai-Barrow Syndrome	Short sternum, Umbilical hernia, Ventricular septal defect	OMIM:222448
Isolated Posterior Meningocele	Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, ...	ORPHA:268810
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Pectus carinatum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardio...	OMIM:617506
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hip dysp...	OMIM:208085
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Broad finger, 11 pairs of ribs, Ventricular septal defect, 2-3 toe syndactyly, Shor...	ORPHA:488632
Chromosome 16P13.3 Duplication Syndrome	Short toe, Short thumb, Sandal gap, Tetralogy of Fallot, Cervical C5/C6 vertebrae fusion, Ventric...	OMIM:613458
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida	ORPHA:3169
Diamond-Blackfan Anemia 10	Supernumerary ribs, Patent ductus arteriosus, Ventricular septal defect	OMIM:613309
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Broad thumb, Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, ...	OMIM:309520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Branchial anomaly, Ventricular septal d...	ORPHA:453499
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Abnormal heart morphology, Patent foramen ovale, Ventricular septal d...	ORPHA:457279
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Cutis marmorata, Ventricular septal defect, Bicuspi...	OMIM:610759
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Short distal phalanx of finger, Long thumb, Ventricular septal defect, Triphala...	OMIM:220500
Woods Syndrome	3-4 finger cutaneous syndactyly, Ventricular septal defect	OMIM:615236
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Atrial septal defect, Pect...	ORPHA:261236
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia involving the...	ORPHA:2879
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Hydrocephalus, Spina bifida, Hemive...	ORPHA:3412
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Atrial sep...	OMIM:180849
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Adducted thumb	ORPHA:171430
Charge Syndrome	Interrupted aortic arch, Bifid femur, Umbilical hernia, Tetralogy of Fallot, Abnormal tibia morph...	ORPHA:138
Histiocytoid Cardiomyopathy	Stroke-like episode, Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus	ORPHA:137675
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Aplasia of the distal pha...	ORPHA:3472
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Dermatographic urticaria, Atrioventricular canal defect, Coarctation of aorta, Spina bifida, Scol...	OMIM:619480
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:2143
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Ventricular septal defect, Coarctation of aorta, Hydrocephalus, Foot po...	ORPHA:268249
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Clubbing, Facial telangiectasia, Ce...	OMIM:600376
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Hydrocephalus	OMIM:243440
Congenital Tracheal Stenosis	Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,...	ORPHA:141127
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Death in childhood, Ventricular septal def...	OMIM:620609
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Abnormal thoracic spine morphology, Postaxial hand po...	ORPHA:46059
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Hypoxemia, Clubbing	OMIM:610910
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Narrow chest, Abnormal pelvic girdle bone morphology, Synostosis ...	ORPHA:289
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology,...	ORPHA:217085
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Hydrocephalus, Vascular dilatation, Ventricular septal defect	OMIM:219730
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Van Esch-O'Driscoll Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary v...	OMIM:301030
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect	ORPHA:3405
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Absent...	ORPHA:93322
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Death in infancy, Neonatal death, Clubbing, Hypoxemia	OMIM:610921
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fistula, Complet...	OMIM:619343
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular canal de...	ORPHA:97214
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Atrioventricular canal defect, Conotruncal defect, Aplasia/hypoplas...	ORPHA:40366
Noonan Syndrome 1	Clinodactyly, Abnormal sternum morphology, Radial deviation of finger, Hypertrophic cardiomyopath...	OMIM:163950
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect	OMIM:619769
Holoprosencephaly	Spinal dysraphism, Abnormal form of the vertebral bodies, Tetralogy of Fallot, Abnormal pulmonary...	ORPHA:2162
Down Syndrome	Atlantoaxial dislocation, Secundum atrial septal defect, Sandal gap, Umbilical hernia, Tetralogy ...	ORPHA:870
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F...	OMIM:115470
Trichohepatoneurodevelopmental Syndrome	Narrow chest, Hip dislocation, Overlapping toe, Fibular bowing, Clinodactyly of the 5th finger, V...	OMIM:618268
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Progressive congenital scoliosis, Platyspondyly, Congenital hip dislocation, Poor woun...	OMIM:225400
Congenital Disorder Of Glycosylation, Type Iiaa	Narrow chest, Short long bone, Patent ductus arteriosus after premature birth, Ventricular septal...	OMIM:620454
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Coar...	OMIM:600460
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Tetralogy of Fallot, Cutis marmora...	OMIM:100300
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Cutis marmorata, Ventricular septal defect, Aortic aneurysm, Short neck, A...	ORPHA:96121
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Pectus carinatum, Aortic root aneurysm, Umbilical hernia, Ventricular se...	OMIM:620654
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology,...	ORPHA:217093
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Kyphosis, Short toe, Ventricular septal defect, Abnormality of the cervica...	ORPHA:464311
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Narrow chest, Pancreatic lymphangiectasis, Ventricular septal defect, Short neck, Pulmonary lymph...	ORPHA:1655
Burn-Mckeown Syndrome	2-3 toe syndactyly, Atrial septal defect, Ventricular septal defect	OMIM:608572
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Hip dysplasia, Scoliosis, Proximal placement o...	ORPHA:261250
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Costello Syndrome	Ulnar deviation of finger, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal...	ORPHA:3071
Cloacal Exstrophy	Myelomeningocele, Abnormal tibia morphology, Spina bifida, Abnormal fibula morphology, Hemiverteb...	ORPHA:93929
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Death in infancy, Ventricular septal defect	ORPHA:452
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Thoracic hypoplasia, Prominent fingertip pads, Short t...	OMIM:229850
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Sandwich appearance of vertebral bodies, Flared metaphysis,...	OMIM:620558
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Sandal gap, Progeroid facial appearance, Decreased fibular diameter, Dysplasia of the ...	OMIM:619127
Cranioectodermal Dysplasia 2	Narrow chest, Clinodactyly, Horizontal ribs, Patent foramen ovale, Short ribs, Polydactyly, Left ...	OMIM:613610
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Small hand, Broad thumb, Broad hallux, Lumbar hyperlordosis, Abnormal hip bone mo...	ORPHA:251028
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis...	OMIM:245150
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal d...	ORPHA:75389
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Umbilical hernia, Brachydactyly, Ventricular septal defect	ORPHA:1770
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Kyphosis	OMIM:153400
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Triphalangeal thumb, Rocker bottom foot, C...	ORPHA:3078
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricular septal de...	OMIM:616730
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Kyphosis, Clinodactyly of the 5th finger, Ventricular sept...	ORPHA:464306
Keutel Syndrome	Pulmonary artery stenosis, Short distal phalanx of finger, Ventricular septal defect	ORPHA:85202
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Genu valgum, Cyanosis	ORPHA:488627
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe clinodactyly, Ulnar deviation of finger, Toe syndactyly, Broad...	ORPHA:857
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epiphyseal stippling, Bell-shaped thorax, Death in childhood, Ventricular septal defect, Metatars...	OMIM:214100
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Ventr...	ORPHA:2473
Filippi Syndrome	Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th toe, Enlarged epiphyses, Cl...	ORPHA:3255
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Abnormal clavicle morphology, Short 1st metacarpal, Umbilical her...	ORPHA:798
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Patent ductus arteriosus, Ventricular septal defect	OMIM:617021
Cornelia De Lange Syndrome 1	Finger aplasia, Hypoplastic radial head, Cutis marmorata, Ventricular septal defect, Supernumerar...	OMIM:122470
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Ventricular septal defect	OMIM:616901
Osteopetrosis, Autosomal Recessive 7	Death in childhood, Death in infancy, Multiple rib fractures, Femur fracture, Hydrocephalus	OMIM:612301
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Subvalvular...	OMIM:613001
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Tibial torsion, Camptodactyly of finger, Facial telangiectasia, Joint contracture o...	OMIM:602782
Chops Syndrome	Patent foramen ovale, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Brachydactyly, ...	OMIM:616368
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Stippled calcification in carpal bones, Calcification of the aor...	ORPHA:60025
Methimazole Embryofetopathy	Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect	ORPHA:1923
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Cyanosis	OMIM:620423
Kleefstra Syndrome	Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulm...	ORPHA:261494
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Umbilical hernia, Tetralogy of Fallot, Clinodactyly of the 5th fing...	ORPHA:1519
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert...	OMIM:618280
Sepsis In Premature Infants	Cyanosis, Jaundice, Purpura, Petechiae	ORPHA:90051
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Broad ribs, Genu valgum, Broad long bone diaphyses, Hyperlordosis, Hip dysplasi...	OMIM:301066
Craniofacial Microsomia 1	Block vertebrae, Occipital encephalocele, Cervical ribs, Tetralogy of Fallot, Genu valgum, Right ...	OMIM:164210
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Choanal Atresia	Cyanosis, Polydactyly	ORPHA:137914
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Metaphyseal chondrodysplasia, Hallux valgus, Brachydactyly, Abnormal v...	ORPHA:166035
Ogden Syndrome	Facial wrinkling, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septal def...	OMIM:300855
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Coffin-Siris Syndrome 4	Short 5th finger, Mitral atresia, Ventricular septal defect, Prominent interphalangeal joints, At...	OMIM:614609
Meier-Gorlin Syndrome 7	Preaxial hand polydactyly, Complete atrioventricular canal defect, Vertebral segmentation defect,...	OMIM:617063
Short Stature-Micrognathia Syndrome	Broad femoral neck, Ventricular septal defect, 2-3 toe syndactyly, Metaphyseal widening, Coxa val...	OMIM:617164
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Pectus carinatum, Umbilical hernia, Genu valgum, Short neck, Bilateral coxa valga,...	ORPHA:309282
Fetal Akinesia Deformation Sequence 1	Thin ribs, Thoracic hypoplasia, Slender long bone, Camptodactyly of finger, Small placenta, Short...	OMIM:208150
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Camptodactyly of toe, Short neck	ORPHA:251038
Coffin-Siris Syndrome 1	Cutis marmorata, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atrial septal defe...	OMIM:135900
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Right atrial enlar...	ORPHA:99103
Renpenning Syndrome 1	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Tetralogy of Fallot, Cli...	OMIM:309500
Hereditary Acrokeratotic Poikiloderma	Erythema, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal meta...	ORPHA:2907
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Branchial fistula, Camptodactyly of finger, Ventricular septal defect, Camptodact...	ORPHA:261337
Pitt-Hopkins Syndrome	Small hand, Finger clinodactyly, Acrocyanosis, Short neck, Broad fingertip, Short metatarsal, Sco...	ORPHA:2896
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, ...	OMIM:618454
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Abnormal femoral torsion, Tibial torsion, Long hallux, Abnor...	ORPHA:500095
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Cyanosis, Death in infancy, Concentric hypertrophic cardiomyopathy	OMIM:252010
Den Hoed-De Boer-Voisin Syndrome	Small hand, Sandal gap, Ventricular septal defect, 2-3 toe syndactyly, Death in adolescence, Shor...	OMIM:619229
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Broad hallux, Preaxial polydactyly, Ventricular septal defect, Short rib...	OMIM:615948
Bohring-Opitz Syndrome	Short toe, Overlapping toe, Ventricular septal defect, Tapered finger, Atrial septal defect, Camp...	OMIM:605039
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal tibia morphology, Genu valgum, M...	ORPHA:363700
Aicardi-Goutières Syndrome	Moyamoya phenomenon, Hypertrophic cardiomyopathy, Cutis marmorata, Calcification of the aorta, Ca...	ORPHA:51
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Ventricular septal defect	OMIM:616037
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short hume...	ORPHA:3404
Amish Lethal Microcephaly	Spina bifida, Death in infancy	ORPHA:99742
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Encephalocele, M...	ORPHA:1827
Cerebellar-Facial-Dental Syndrome	Slender long bone, Mitral valve prolapse, Ventricular septal defect, Short neck, Tapered finger, ...	ORPHA:444072
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Semilobar holoprosencephaly, Clinodactyly, Broad hallux, Contracture of the proximal ...	OMIM:301044
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo...	OMIM:192430
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Scoliosis	OMIM:223900
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Monosomy 9P	Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the tarsal bones, Sh...	ORPHA:261112
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Ventricular sept...	ORPHA:217346
Unilateral Polymicrogyria	Abnormal heart morphology, Stroke, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Beck-Fahrner Syndrome	Cardiomegaly, Hip dysplasia, Ventricular septal defect	OMIM:618798
Zellweger Syndrome	Jaundice, Epiphyseal stippling, Death in infancy, Ventricular septal defect	ORPHA:912
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul...	OMIM:300967
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Bruising susceptibility, Ventricular septal defect, Absent radius, Ant...	OMIM:227645
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Oxygen desaturation on exertion, Hypoxemia, Atrial septal defect, Ventricular septal defect	OMIM:610978
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Brachydactyly, Atrial septal defect, Ventricular septal defect	ORPHA:457193
Fanconi Anemia, Complementation Group N	Absent thumb, Short thumb, Ventricular septal defect, Short neck, Atrial septal defect, Hypoplasi...	OMIM:610832
Coccidioidomycosis	Vasculitis, Abnormality of the vertebral column, Broad ribs, Abnormal long bone morphology, Abnor...	ORPHA:228123
Trichothiodystrophy	Cardiomyopathy, Umbilical hernia, Ventricular septal defect, Prematurely aged appearance, Cutaneo...	ORPHA:33364
Diamond-Blackfan Anemia 12	Triphalangeal thumb, Ventricular septal defect	OMIM:615550
Opitz Gbbb Syndrome	Aortic root aneurysm, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricu...	ORPHA:2745
Williams Syndrome	Death in early adulthood, Genu valgum, Mitral valve prolapse, Ventricular septal defect, Bicuspid...	ORPHA:904
Phakomatosis Pigmentokeratotica	Scoliosis, Spina bifida	ORPHA:2874
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Ventricular se...	ORPHA:163979
Distal Deletion 19P	Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Long toe, ...	ORPHA:96129
Teebi Hypertelorism Syndrome 1	Small hand, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:145420
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect	OMIM:616920
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele	ORPHA:2031
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Tetralogy of Fallot, Ventricular septal defect, Prolonged neonata...	OMIM:619525
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Phace Association	Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br...	OMIM:606519
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Familial Dysautonomia	Acrocyanosis, Scoliosis	ORPHA:1764
Surfactant Metabolism Dysfunction, Pulmonary, 2	Cyanosis, Hypoxemia, Clubbing	OMIM:610913
Coffin-Siris Syndrome	Short 5th finger, Clinodactyly, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septa...	ORPHA:1465
Omodysplasia 1	Short tibia, Umbilical hernia, Short humerus, Ventricular septal defect, Fibular hypoplasia, Pulm...	OMIM:258315
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Arach...	ORPHA:83617
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv...	ORPHA:99094
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, 11 pairs of ribs, Hydrocepha...	OMIM:258040
Diamond-Blackfan Anemia	Absent thumb, Short thumb, Abnormal heart morphology, Radial artery aplasia, Partial duplication ...	ORPHA:124
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Curry-Jones Syndrome	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio...	OMIM:601707
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Proxi...	OMIM:610536
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence...	ORPHA:2052
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, ...	OMIM:607721
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Branchial anomaly, Ventricular septal defect, Vertebral segmentation d...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Branchial anomaly, Ventricular septal defect, Vertebral segmentation d...	ORPHA:352665
Mosaic Variegated Aneuploidy Syndrome 2	Clinodactyly, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis, Atria...	OMIM:614114
Distal Duplication 5Q	Absent thumb, Ventricular septal defect, Hypoplasia of the radius, Brachydactyly, Dextrocardia, H...	ORPHA:96097
Goldberg-Shprintzen Syndrome	Small hand, Ventricular septal defect, Short neck, Clinodactyly of the 5th finger, Increased femo...	OMIM:609460
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pe...	ORPHA:26793
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnormal heart morphology, Ab...	ORPHA:268261
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Ventricular septal defect, Atrial septal defect, Hol...	OMIM:270400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Persistent left superior vena cava, Pericardial effusion, Ventricula...	OMIM:618775
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Hypoplastic ilia, Narrow chest, Secundum atrial septal defect, Clinodactyly, Slender l...	OMIM:264090
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Anterior concavity of thoracic vertebrae, Ven...	OMIM:216340
Alg9-Cdg	Flared metaphysis, Abnormal heart morphology, Abnormal renal artery morphology, Ventricular septa...	ORPHA:79328
Costello Syndrome	Pectus carinatum, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, ...	OMIM:218040
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Mitral valv...	ORPHA:285
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Hip dislocation	ORPHA:2003
Postinfectious Vasculitis	Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I...	ORPHA:48435
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus...	OMIM:620519
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Hip dislocation, Abnormal epiphysis morphology, Umbilical hernia, Genu valgum, Abn...	ORPHA:534
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Kindler Epidermolysis Bullosa	Erythema, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal,...	ORPHA:2908
Trichohepatoenteric Syndrome 1	Tetralogy of Fallot, Avascular necrosis of the capital femoral epiphysis, Large placenta, Ventric...	OMIM:222470
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Camptodactyly of finger, Pat...	ORPHA:2554
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ...	OMIM:620024
Neu-Laxova Syndrome	Scoliosis, Spina bifida	ORPHA:2671
Peters-Plus Syndrome	Square pelvis bone, Ventricular septal defect, Short neck, Atrial septal defect, Short foot, Shor...	OMIM:261540
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect	ORPHA:369929
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Clinodactyl...	OMIM:616975
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Ventricular septal defect, Metaphyseal chondrodysplasia, Brachyda...	OMIM:250410
Ethylene Glycol Poisoning	Cyanosis	ORPHA:31826
Hardikar Syndrome	Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Prolonged neonatal jaundice, P...	OMIM:301068
Arboleda-Tham Syndrome	Narrow chest, Secundum atrial septal defect, Sandal gap, Enlarged proximal interphalangeal joints...	OMIM:616268
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal...	OMIM:615474
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hypoplasia of proximal radius, A...	ORPHA:444077
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Scoliosis, Brachydactyly	ORPHA:293987
Seckel Syndrome 9	Pulmonary artery hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:616777
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec...	OMIM:107480
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Death in infancy	OMIM:618426
Cardiogenic Shock	Cyanosis, Hypoxemia	ORPHA:97292
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in childhood, Death in infancy, Ventricular septal defect	OMIM:243150
Kabuki Syndrome 1	Abnormal vertebral morphology, Short 5th finger, Congenital hip dislocation, Prominent fingertip ...	OMIM:147920
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Clinodactyly of the 5th finger, ...	OMIM:616682
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Short finger, Dilatation of the ventricular cavity, Ventricular septal defect, Pu...	ORPHA:459070
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Broad distal phalanx of finger, Vascular ring, Broad thumb, Broad hallux, ...	ORPHA:353281
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Complete atrioventricular canal defect, Ventri...	OMIM:236680
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Overriding aorta, Hydrocephalus, Atrial s...	OMIM:309801
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Hyperoxaluria, Primary, Type I	Peripheral arterial stenosis, Cutis marmorata, Acrocyanosis	OMIM:259900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	2-3 toe syndactyly, Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Absent radius, Short hume...	OMIM:268300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Broad thumb, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	ORPHA:353277
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Synostosis involving the 1st metacarpal, Abnormal left ventricle morphology, Right ventricular hy...	ORPHA:466791
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Ventricula...	OMIM:123700
Dermatomyositis	Vasculitis, Erythema, Shawl sign, V-sign, Facial erythema, Telangiectasia of the skin, Myocarditi...	ORPHA:221
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa...	OMIM:618748
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Biventricular hypertrophy, Femoral bowing, Partial atrioventricular ca...	OMIM:616462
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Syndromic Diarrhea	Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of Fallot, Ventricular...	ORPHA:84064
Rabson-Mendenhall Syndrome	Cardiomyopathy, Premature graying of hair, Reduced subcutaneous adipose tissue, Polydactyly, Vent...	ORPHA:769
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Oligodactyly, Cutis marmorata, Clinodactyly of ...	ORPHA:199
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat...	OMIM:194050
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Neonatal death,...	OMIM:619534
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Overlapping toe, Patent foramen ovale, Ventricular septal defect, Clinodactyly ...	OMIM:613884
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis, Cardiomyopathy	ORPHA:416
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Facial erythema, Meningocele, Flexion contracture of finger, Poor wound healing	ORPHA:1010
Sotos Syndrome	Abnormal vertebral morphology, Kyphosis, Umbilical hernia, Abnormal heart morphology, Flushing, H...	ORPHA:821
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele	OMIM:267750
Alobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Scoliosis, Hip dislocation, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Scoliosis, Hip dislocation, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Scoliosis, Hip dislocation, Neural tube defect	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Scoliosis, Hip dislocation, Neural tube defect	ORPHA:220386
Feingold Syndrome 1	Interrupted aortic arch, Short toe, Short thumb, Short middle phalanx of finger, Ventricular sept...	OMIM:164280
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi...	ORPHA:2729
Diets-Jongmans Syndrome	Umbilical hernia, Hip dysplasia, Interrupted inferior vena cava with azygous continuation, Ventri...	OMIM:618846
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Broad hallux, Deviation of the hallux, Aplasia of the epiglottis, Ven...	ORPHA:434179
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Peripheral pulmonary artery stenosis, Hydrocephalus, Ventricular septal defect	OMIM:619575
Degcags Syndrome	Toe syndactyly, Short thumb, Preaxial hand polydactyly, Sacral dimple, Premature graying of hair,...	OMIM:619488
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Small hand, Ventricular septal defect	OMIM:614947
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis	OMIM:617239
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent...	ORPHA:438213
Pallister-Killian Syndrome	Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Ventricular septal defect, Short n...	OMIM:601803
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	ORPHA:96191
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Genitopatellar Syndrome	Congenital hip dislocation, Inferior pubic ramus hypoplasia, Patellar aplasia, Hip contracture, V...	OMIM:606170
Thauvin-Robinet-Faivre Syndrome	Long hallux, Mitral valve prolapse, Ventricular septal defect, Varicose veins, Bowing of the legs	OMIM:617107
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Short thumb, Short finger, Ventricular septal defect, Atrial septal defect, Bro...	OMIM:619522
Early Infantile Epileptic Encephalopathy	Short finger, Umbilical hernia, Broad phalanx of the toes, Ventricular septal defect, Broad finger	ORPHA:1934
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Short finger, Ventricular septal defect, Ventricula...	OMIM:608670
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Sandal gap, Umbilical hernia, Ventricular septal defect, Short neck, Cutaneous ...	OMIM:620330
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ...	ORPHA:3047
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Long hallux, Genu valgum, Ventricular septal defect, Arachnodactyly, Bicus...	ORPHA:261552
Mowat-Wilson Syndrome	Pectus carinatum, Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, P...	OMIM:235730
Holoprosencephaly 9	Alobar holoprosencephaly, Short neck, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephal...	OMIM:610829
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli...	OMIM:619268
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Osteopetrosis With Renal Tubular Acidosis	Prominent floating ribs, Pectus excavatum	ORPHA:2785
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Ventricular septal defect	ORPHA:1071
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Arima Syndrome	Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly	OMIM:243910
Liver Disease, Severe Congenital	Umbilical hernia, Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal ...	OMIM:619991
Exstrophy-Epispadias Complex	Abnormal heart morphology, Hydrocephalus, Spina bifida	ORPHA:322
Proboscis Lateralis	Holoprosencephaly, Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Goodpasture Syndrome	Cyanosis	OMIM:233450

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 Dvl2

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 Dvl2.

No publications found that use IMPC mice or data for Dvl2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Dvl2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dvl2^em1(IMPC)H	Indel	Mice
Dvl2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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