Gene Summary

Name:
coiled-coil and C2 domain containing 2A
Synonyms:
5730509K17Rik,  b2b1035Clo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

View all 146 images

Human diseases caused by Cc2d2a 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.

The table below shows human diseases predicted to be associated to Cc2d2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Abnormal heart morphology, Delayed puberty, Radial d... OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Syndactyly, Congenital malformation of the great ar... ORPHA:294975
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Broad hallux, ... OMIM:217095
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638
Genitopalatocardiac Syndrome
Renal cyst, Cleft upper lip, Double outlet right ventricle, Right aortic arch, Ventricular septal... OMIM:231060
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Ventricular septal defect, Truncus arterios... OMIM:228940
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ectopic kidney, Long philtrum, Atrial septal defect, Dislocated radial head, Intes... ORPHA:401935
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Ventricular septal defect, Truncus art... OMIM:601355
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Intrauterine growth retardation, Renal hypoplasia/aplasia, High, narrow palate, S... ORPHA:2516
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Cardioacrofacial Dysplasia 2
Brachydactyly, Clubbing, Accessory oral frenulum, Short philtrum, Postaxial foot polydactyly, Con... OMIM:619143
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Intestinal m... ORPHA:210122
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Accessory oral frenulum, Short philtrum, Conical tooth, A... OMIM:619142
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Short stature, Smooth philtrum, Truncus arteriosus, Thin upper l... OMIM:611867
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Renal agenesis, Cleft upper lip, 2-3 toe syndactyly, Tric... OMIM:264480
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Unilateral renal agenesis, High palate, Intrauterine growth retard... OMIM:618142
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Broad hallux, Coarctation of aorta, Bicuspid aortic... OMIM:612474
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Broad hallux, Coarctation of... OMIM:217085
Mmep Syndrome
Triphalangeal thumb, Microphthalmia, Ventricular septal defect, Oral cleft, Split foot, Median cl... ORPHA:3434
Van Esch-O'Driscoll Syndrome
Bifid uvula, Intrauterine growth retardation, Atrial septal defect, Growth delay, Short stature, ... OMIM:301030
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Acrocardiofacial Syndrome
Toe syndactyly, Tetralogy of Fallot, Foot polydactyly, Finger syndactyly, Intrauterine growth ret... ORPHA:2008
Chime Syndrome
Hydronephrosis, Microdontia, Ventricular septal defect, Aplasia/Hypoplasia of the phalanges of th... ORPHA:3474
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Neonatal short-limb short stature, Cleft upper lip, Po... OMIM:225500
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Truncus arteriosus OMIM:274210
Robinow Syndrome
Acromesomelia, Long philtrum, Tricuspid atresia, Hydronephrosis, Multicystic kidney dysplasia, Me... ORPHA:97360
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... OMIM:618845
Adams-Oliver Syndrome 6
Brachydactyly, Renal hypoplasia, Esophageal varix, Foot oligodactyly, Ventricular septal defect, ... OMIM:616589
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Patent ductus arteriosus, Velophar... ORPHA:363444
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Hydronephrosis, Doubl... OMIM:220210
Distal Monosomy 19P13.3
Short philtrum, Long toe, Tricuspid valve prolapse, Arachnodactyly, Pulmonary valve atresia, Vent... ORPHA:96129
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Bowing of the legs, Clubbing, Narrow mouth, High palate, ... OMIM:617063
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Patent ductus arteriosus, Atrial septal defect, Everted lower lip... OMIM:249670
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Dextrocardia, Cleft palate OMIM:221950
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Anophthalmia, Horseshoe kidney, Intrauterine growth retardation, Patent duct... OMIM:601186
Sandestig-Stefanova Syndrome
Clinodactyly, High palate, Intrauterine growth retardation, Rocker bottom foot, Muscular ventricu... OMIM:618804
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs inversus totalis, Pul... OMIM:615415
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Abnormality of the dentition, Atrial septal defect... OMIM:179613
Trisomy 13
Anophthalmia, Abnormality of pelvic girdle bone morphology, Abnormality of the ureter, Patent duc... ORPHA:3378
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Clinodactyly, High palate, Abnormal heart valve morphology, Short palm, Abnormality of the dentit... OMIM:126190
Eng-Strom Syndrome
Brachydactyly, Intrauterine growth retardation, Short stature, Ventricular septal defect, Camptod... ORPHA:1937
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Emanuel Syndrome
Renal agenesis, High palate, Intrauterine growth retardation, Patent ductus arteriosus, Long phil... OMIM:609029
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Intestinal malrotation, Heterotaxy, Double outlet right ventri... ORPHA:3426
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Sonoda Syndrome
Narrow mouth, Short stature, High axial triradius, Ventricular septal defect OMIM:270460
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Short stature, Growth delay OMIM:617744
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Clinodactyly, High palate, Patent... OMIM:619343
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, At... OMIM:265380
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... OMIM:618316
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Right ventricular dilatation, Intrauterine growth retardation, Patent ductus arterio... OMIM:612863
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Disp... ORPHA:1354
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Meacham Syndrome
Tetralogy of Fallot, Enlarged kidney, Horseshoe kidney, Patent ductus arteriosus, Atrial septal d... OMIM:608978
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Long philtrum, Hydronephrosis, Pulmonic stenosis, Ventricula... ORPHA:251076
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Abnormality of lower lip, Tooth agenesis, Shor... ORPHA:1166
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Feingold Syndrome Type 1
Tricuspid atresia, Clinodactyly of the 5th finger, Hydronephrosis, Short thumb, Short middle phal... ORPHA:391641
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... OMIM:617478
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, High palate, Solitary median maxillary central incisor, Isomerism, Patent ductus ... OMIM:619657
Trisomy 17P
Clinodactyly of the 5th finger, Hydronephrosis, Tapered finger, Polycystic kidney dysplasia, Macr... ORPHA:261290
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... OMIM:618719
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis, Abnormal hand morphology OMIM:122850
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Absent radius, Isomerism, Atrioventricular canal defect, Hydronephrosis, Tracheo... OMIM:314390
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Multicystic kidney dysplasia, Renal dysplasia, Esophagitis, Abnormality of the humer... ORPHA:2538
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Meckel Syndrome, Type 4
Bowing of the long bones, Renal cyst, Intrauterine growth retardation, Atrial septal defect, Micr... OMIM:611134
Thomas Syndrome
Cleft upper lip, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia, ... ORPHA:3316
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Jejunal atresia, Short stature, Short middle phalanx ... ORPHA:391646
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
High palate, Abnormal heart valve morphology, Clinodactyly of the 5th finger, Pulmonic stenosis, ... ORPHA:2868
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Single transverse palmar crease, Sandal g... OMIM:617927
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Hypoplastic pubic bone, Short long b... OMIM:617925
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Sandal gap, Clinodactyly of the 5th fing... ORPHA:2515
Fanconi Anemia, Complementation Group O
Absent thumb, Renal cyst, Hydronephrosis, Hypoplasia of the radius, Short thumb, Anal atresia, Ab... OMIM:613390
Joubert Syndrome 18
Horseshoe kidney, Intrauterine growth retardation, Polydactyly, Ventricular septal defect, Campto... OMIM:614815
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Hypoplasia of the ulna, Intrauterine growth retardation, Absent radius, Atri... OMIM:600123
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, M... OMIM:173900
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Hand polydactyly, Hypoplastic left heart, Clef... OMIM:236110
Down Syndrome
Complete atrioventricular canal defect, Single transverse palmar crease, Shallow acetabular fossa... OMIM:190685
Emanuel Syndrome
Unilateral renal agenesis, Bifid uvula, Long philtrum, Ventricular septal defect, Cleft palate, T... ORPHA:96170
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Trisomy 1Q
Narrow mouth, Toe syndactyly, Anophthalmia, Patent ductus arteriosus, Hydronephrosis, Anal atresi... ORPHA:261344
Verheij Syndrome
Renal agenesis, Clinodactyly, Renal cyst, Long philtrum, Renal hypoplasia, Short 5th finger, Grow... OMIM:615583
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, High palate, 2-3 toe syndactyly, Short palm, Long philtru... ORPHA:476126
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
Holoprosencephaly 5
Semilobar holoprosencephaly, Lobar holoprosencephaly, Syntelencephaly, Hydrocephalus, Holoprosenc... OMIM:609637
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Anal atresia, Microphthalmia, Ventricular septal defect, Abno... ORPHA:3469
Duane-Radial Ray Syndrome
Small thenar eminence, Renal malrotation, Sandal gap, Hydronephrosis, Short thumb, Ventricular se... OMIM:607323
Monosomy 13Q34
Fetal pyelectasis, Postaxial foot polydactyly, Growth delay, Pulmonic stenosis, Postaxial hand po... ORPHA:96168
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarcta... OMIM:618164
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Short toe OMIM:615297
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Polycystic kidney dysplasia, Wide mouth, Pericardial effusion, Hip dislocation, Ab... OMIM:608776
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Hyperecho... OMIM:613885
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe synd... ORPHA:3304
Polysyndactyly With Cardiac Malformation
Renal cyst, Atrial septal defect, Duplication of phalanx of hallux, Preaxial hand polydactyly, Ve... OMIM:263630
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Long philtrum, Preaxial foot polydactyly, Abnormali... ORPHA:1988
Distal Tetrasomy 15Q
High palate, Horseshoe kidney, Intrauterine growth retardation, Patent ductus arteriosus, Atrial ... ORPHA:314588
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Mckusick-Kaufman Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplastic left heart, Ventricular septal defect, ... ORPHA:2473
Maternal Phenylketonuria
Brachydactyly, Clinodactyly, Tetralogy of Fallot, High palate, Intrauterine growth retardation, L... ORPHA:2209
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia, Short stature, Hydrocephalus, Delayed puberty, Hypospadias ORPHA:141333
Phenobarbital Embryopathy
Brachydactyly, Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip, Aplas... ORPHA:1919
Femoral-Facial Syndrome
Long philtrum, Polycystic kidney dysplasia, Ventricular septal defect, Thin upper lip vermilion, ... OMIM:134780
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Polycystic kidney dysplasia, Micromelia, Cleft palate, Bowing of the lo... OMIM:614091
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Distal 22Q11.2 Microdeletion Syndrome
Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Recurrent urinary tract infectio... ORPHA:261330
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Bilateral single ... ORPHA:3033
Stankiewicz-Isidor Syndrome
Absent thumb, 2-3 toe syndactyly, Patent ductus arteriosus, Ureteral duplication, Micropenis, Sho... OMIM:617516
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, 2-3 toe syndactyly, Long philtrum, Atrial septal defect, ... ORPHA:477817
Microgastria-Limb Reduction Defects Association
Absent thumb, Unilateral renal agenesis, Anophthalmia, Hypoplasia of the ulna, Hand oligodactyly,... OMIM:156810
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly OMIM:306990
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Renal hypoplasia/aplasia, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, T... ORPHA:2549
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Optic nerve hypopl... ORPHA:508498
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Tetralogy Of Fallot
Brachydactyly, Tetralogy of Fallot, Intrauterine growth retardation, Clinodactyly of the 5th fing... ORPHA:3303
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... OMIM:600987
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Cleft palate, Hip dislocation, High palate, Anophthalmia, Single ... OMIM:206920
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Odontochondrodysplasia 1
Genu varum, Delayed ossification of carpal bones, Long philtrum, Polycystic kidney dysplasia, Mic... OMIM:184260
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Patent ductus arteriosus, Tracheoesophageal fistula, Hypoplasia of penis, Growth de... ORPHA:77298
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Intrauterine growth retardation, Upper limb undergrowth, ... OMIM:236680
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Patent foramen ovale, Tricuspid atresia, Arteria lusoria, Hydronephrosis, ... OMIM:212093
Faciocardiorenal Syndrome
Narrow mouth, Horseshoe kidney, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse,... ORPHA:1973
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
14Q11.2 Microdeletion Syndrome
Narrow mouth, Toe syndactyly, High palate, Toe clinodactyly, Long philtrum, Patent ductus arterio... ORPHA:261120
Orofaciodigital Syndrome Xvii
Clinodactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, Micropenis, Renal hypoplasia, Par... OMIM:617926
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, U-Shaped upper lip verm... OMIM:612946
Filippi Syndrome
Short philtrum, Single transverse palmar crease, Intrauterine growth retardation, Cutaneous synda... OMIM:272440
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Nanophthalmos 4
Microphthalmia OMIM:615972
Intellectual Developmental Disorder, Autosomal Recessive 73
Single transverse palmar crease, Drooling, Patent ductus arteriosus, Clinodactyly of the 5th fing... OMIM:619717
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Hand polydactyly, Coarctation of aorta, Arachnodactyly... ORPHA:261243
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Intrauterine growth retardation, Metatarsus adductus, Polycystic... OMIM:214110
Fibular Hemimelia
Fibular hypoplasia, Renal dysplasia, Short tibia, Short toe, Abnormal morphology of ulna, Arthral... ORPHA:93323
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Atrioventricular canal defect DECIPHER:39
Nasodigitoacoustic syndrome
High palate, Enlarged epiphyses, Short phalanx of finger, Thick upper lip vermilion, Broad hallux... OMIM:255980
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet le... OMIM:600001
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Tetralogy of Fallot, Perineal hypospadias, Microphallus OMIM:615542
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology, Smooth philtrum, Short long bone, Metaphy... OMIM:263210
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Atrial septal defect, Micropenis, Intest... OMIM:263520
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Clinodactyly, Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposi... OMIM:616730
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Patent ductus arteriosus, Atrial septal defect... OMIM:612561
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Aganglionic megacolon, Ventricular septal defect, Preaxial foot polydac... OMIM:235750
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Pyloric stenosis, Camptodacty... OMIM:614262
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hydronephrosis, Optic nerve hypoplasia, Double outlet right ventricle, Ventricular septal defect,... OMIM:301056
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Single vent... OMIM:270100
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Double outlet right ven... OMIM:605376
Spinal Muscular Atrophy, Type I
Atrial septal defect, Tongue fasciculations, Ventricular septal defect OMIM:253300
Orofaciodigital Syndrome I
Clinodactyly, Proteinuria, Radial deviation of finger, Ovarian cyst, Polycystic kidney dysplasia,... OMIM:311200
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Nephroblastoma, Ventricular septal defect, Smooth philtrum, Syndactyly OMIM:602501
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Kapur-Toriello Syndrome
Single transverse palmar crease, Intrauterine growth retardation, Patent ductus arteriosus, Cleft... OMIM:244300
Bardet-Biedl Syndrome 17
Brachydactyly, Renal cyst, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot ... OMIM:615994
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Hand clenching, Ventricular septal d... ORPHA:1692
Catel-Manzke Syndrome
Overriding aorta, High palate, Ulnar deviation of the 2nd finger, Single transverse palmar crease... OMIM:616145
Galloway-Mowat Syndrome 7
Clinodactyly, Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Hallux valgus,... OMIM:618348
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Alagille Syndrome 2
Tetralogy of Fallot, Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Atrial septal de... OMIM:610205
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Phocomelia, Patent ductus arteriosus, Atrial septal defect, Trip... ORPHA:392
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Short 1st metacarpal, Hypoplasia of deltoi... OMIM:147750
Abruzzo-Erickson Syndrome
Brachydactyly, Toe syndactyly, Abnormal palate morphology, Atrial septal defect, Radioulnar synos... ORPHA:921
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Tracheoesophageal ... OMIM:619227
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Narrow mouth, Abnormality of pelvic girdle bone morphology, Intrauterine growth re... ORPHA:2370
3C Syndrome
Abnormal hip bone morphology, Abnormal mitral valve morphology, Hydronephrosis, High, narrow pala... ORPHA:7
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Cleft palate, Synostosis of carpal bones, Bowing ... ORPHA:90652
Orofaciodigital Syndrome Type 6
Brachydactyly, Renal agenesis, High palate, Tongue nodules, Foot polydactyly, Mesoaxial polydacty... ORPHA:2754
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongue, Polycystic kid... OMIM:613091
Czeizel-Losonci Syndrome
Hydronephrosis, Dextrocardia, Spina bifida, 2-3 finger syndactyly, Single transverse palmar creas... ORPHA:2437
Ellis Van Creveld Syndrome
Foot polydactyly, Microdontia, Dextrocardia, Micromelia, Ventricular septal defect, Atrioventricu... ORPHA:289
Mosaic Trisomy 20
Clinodactyly, Horseshoe kidney, Intrauterine growth retardation, Abnormal mitral valve morphology... ORPHA:1724
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Rocker bottom foot, Microphthalmia, Talipes equinovarus, Cleft p... OMIM:616570
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Ventricu... ORPHA:1913
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Vascular dilatation, Polycystic kidney dysplasia OMIM:614859
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency, Polydactyly OMIM:615987
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Microphthalmia, Syndromic 2
Bifid uvula, Long philtrum, Hammertoe, Sandal gap, Radiculomegaly, Dextrocardia, Double outlet ri... OMIM:300166
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 5th metacarpal, Intrinsic hand muscle atrophy, Short 3rd toe,... OMIM:618569
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Lethargy, Hydrocephalus ORPHA:26
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Short statur... OMIM:613005
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Everted lower lip vermilion, Tented upper lip vermilion, Cl... OMIM:616898
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspid valve, ... OMIM:618280
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Abnormal localization of kidney, Postaxial hand polydactyly, Ventricular septal def... ORPHA:83473
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Polycystic kidney dysplasia, Cleft palate, Bowing of the long bon... OMIM:249000
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Atrial septal defect, Tracheoesophageal fistula, Microphthalmi... ORPHA:261272
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Abnormal hair morphology, Preaxial polydactyly, Spina bifida, ... ORPHA:64754
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
3P25.3 Microdeletion Syndrome
Acromesomelia, Tapered finger, High, narrow palate, Coronary artery atherosclerosis, Ventricular ... ORPHA:435638
Prune Belly Syndrome
Tetralogy of Fallot, Abnormality of the ureter, Patent ductus arteriosus, Atrial septal defect, I... ORPHA:2970
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tapered finger, Short phalanx of finger, Long fingers, Proximal placement o... OMIM:613458
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Polydactyly OMIM:605231
Li-Campeau Syndrome
Single transverse palmar crease, Patent foramen ovale, Patent ductus arteriosus, Patellar hypopla... OMIM:619189
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Patent foramen ovale, Atrial septal defect, Muscular ventricu... ORPHA:439
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Abnormality of epiphysis morphology, Rhizomelia, Microp... ORPHA:93267
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy, Microphthalmia, Uraciluria, Optic atrophy OMIM:274270
Distal Monosomy 15Q
Multicystic kidney dysplasia, Hypoplastic left heart, Mitral stenosis, Small hand, Thin upper lip... ORPHA:1596
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, High palate, Broad alveolar ridges, Delayed eruption of teeth, Patent ductus arter... ORPHA:2863
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Abnormal tricuspid valve morphology, Deviation of finge... ORPHA:2412
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Median cleft palate, Pectoral muscle hypoplasia... OMIM:136760
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Thick lower lip vermilion, Widely-spaced maxillary central ... OMIM:608227
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Unbalanced atrioventricular canal defect, Interrupted inferior vena cav... OMIM:618300
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Microphthalmia, Dandy-Walker malformation, Orbital ence... OMIM:164180
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormality of the palmar creases, Atrial septal ... OMIM:618652
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Abnormal palate morphology, Aplasia/Hypoplasia of the lens, Hypoplasia of pe... ORPHA:1381
Fryns Microphthalmia Syndrome
Abnormality of the ear, Anophthalmia, Neural tube defect, Microphthalmia, Macrotia OMIM:600776
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect ORPHA:1918
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Intrauterine growth retardation, Patent ductus arteriosus, Atrial sept... OMIM:608406
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Patent ductus arteriosus, Atrial septal defect, Triphalangeal thumb, S... ORPHA:1120
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Long philtrum, Atrioventricular canal defect, Downturned corners of mouth, Tapered f... OMIM:613792
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Intr... ORPHA:555874
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb,... ORPHA:3098
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the dentition, Short stature, Abnormality of the kidney, Ventricular septal defect OMIM:616901
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Proteinuria, Atrial septal defect, Widely spaced teeth, Microdon... ORPHA:2728
Frank-Ter Haar Syndrome
Abnormally large globe, Double outlet right ventricle, Ventricular septal defect, Buphthalmos, Th... OMIM:249420
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Atrial septal defect, Carpal osteolysis, Osteolysis involving bones of the lo... ORPHA:371428
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Long philtrum, Atrial septal defect, Sandal gap, Short stature, Ventricular ... OMIM:300887
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Long toe, Patent ductus arteriosus, Atrial septal defect, Long fingers, Bicuspid ... OMIM:613355
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Long philtrum, Cleft maxillary alveolus, Clinodactyly of the 5th finge... ORPHA:508488
Coffin-Siris Syndrome 10
Clinodactyly, Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Ventriculomegaly, Hydrocephalus OMIM:615938
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Type E brachydactyly, Short 4th metacarpal, Short stature, Short metatarsal OMIM:113301
Floating-Harbor Syndrome
Epididymal cyst, Clinodactyly, Mesocardia, Hydronephrosis, Broad fingertip, Microdontia, Short th... ORPHA:2044
Congenital Rubella Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Microphthalmia, ... ORPHA:290
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Patent ductus arteriosus, Atrial septal defect, Pancreatic cys... OMIM:208540
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Optic atrophy, Hydrocephalus ORPHA:1538
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Perineal hypospadias, Intrauterine growth retardation, Muscular ventricul... ORPHA:66634
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Protruding tongue, Patent ductus arteriosus, Atrial septal defect, ... OMIM:300963
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Short stature, Vent... OMIM:615503
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Atrial septal defect, Cleft soft palate, Esophageal atresia, Microphthalmia, Smoot... OMIM:614526
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Ventricular septa... ORPHA:228399
Hydrolethalus
Anophthalmia, Low-set ears, Anencephaly, Microphthalmia, Micromelia, Low-set, posteriorly rotated... ORPHA:2189
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, High palate, Cystic renal dysplasia, Increased urine alpha-ketoglutarate concentr... OMIM:220500
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Hydronephrosis, Renal dysplasia, Ventricular septal defect, D... OMIM:146510
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Fanconi Anemia, Complementation Group I
Absent thumb, Horseshoe kidney, Patent foramen ovale, Intrauterine growth retardation, Atrial sep... OMIM:609053
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hyp... ORPHA:94066
Phelan-Mcdermid Syndrome
High palate, 2-3 toe syndactyly, Patent ductus arteriosus, Long philtrum, Clinodactyly of the 5th... OMIM:606232
Hartsfield Syndrome
Microphthalmia, Lobar holoprosencephaly, Encephalocele ORPHA:2117
Lowry-Maclean Syndrome
Abnormal heart morphology, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate OMIM:600252
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter, Atrial septal defect, Sandal gap, Micromelia, Arachnodact... ORPHA:1035
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Situs inversus totalis, Polydactyly OMIM:615985
8P23.1 Microdeletion Syndrome
High palate, Tetralogy of Fallot, Thin vermilion border, Intrauterine growth retardation, Patent ... ORPHA:251071
Vater/Vacterl Association
Hydronephrosis, Short thumb, Patent urachus, Renal dysplasia, Ventricular septal defect, Renal ag... OMIM:192350
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermilion, Submu... OMIM:619103
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Teebi-Shaltout Syndrome
Hydronephrosis, High, narrow palate, Ventricular septal defect, Prominent palatine ridges, Cleft ... OMIM:272950
Distal Monosomy 12Q
Long philtrum, Clinodactyly of the 5th finger, Hydronephrosis, High, narrow palate, Polycystic ki... ORPHA:96149
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Growth delay, Pulmonic ste... ORPHA:139466
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Short stature, Ventricular septal defect OMIM:614947
Genitopalatocardiac Syndrome
Brachydactyly, Intrauterine growth retardation, Non-midline cleft lip, Multicystic kidney dysplas... ORPHA:2075
Alg12-Cdg
Short philtrum, Patent foramen ovale, Patent ductus arteriosus, Intrauterine growth retardation, ... ORPHA:79324
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, 2-3 toe syndactyly, Atrial septal def... OMIM:608572
Chromosome 18Q Deletion Syndrome
Bifid uvula, Ventricular septal defect, Dysplastic pulmonary valve, Thin upper lip vermilion, Abs... OMIM:601808
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Hypoplastic left heart, Ventricular septal defect, Cleft pal... ORPHA:2476
Syndromic Diarrhea
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal def... ORPHA:84064
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Ventriculomegaly, Hydrocephalus OMIM:615937
Mcdonough Syndrome
Clinodactyly, Short philtrum, Single transverse palmar crease, Atrial septal defect, Pulmonic ste... OMIM:248950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, High palate, Long toe, Ureteral duplication, Hydronephro... OMIM:608836
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
High palate, Coxa valga, 2-3 toe syndactyly, Intrauterine growth retardation, Rhizomelia, Micrope... OMIM:617164
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Bardet-Biedl Syndrome 5
Brachydactyly, Micropenis, Macular dystrophy, Polydactyly, Rod-cone dystrophy, Syndactyly OMIM:615983
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:615990
Polydactyly, Preaxial Iv
Preaxial polydactyly, Abnormal earlobe morphology, Duplication of thumb phalanx, 1-5 toe syndacty... OMIM:174700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Patent ductus arteriosus, Rhizomelia, Renal hypoplasia, Preaxial polydactyly, Squared... OMIM:616300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Polycystic ovaries, Non-midli... ORPHA:1770
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Atrial septal defect, Imperforate tric... ORPHA:1880
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxi... OMIM:619562
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Abnormality of the ear, Hydrocephalus OMIM:600257
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Holoprosencephaly OMIM:612530
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Inverted Duplicated Chromosome 15 Syndrome
Brachydactyly, Unilateral renal agenesis, Tetralogy of Fallot, High palate, Short philtrum, 2-3 t... ORPHA:3306
Lambert Syndrome
Intrauterine growth retardation, Hypospadias, Ventricular septal defect, Wide mouth ORPHA:1296
Mosaic Trisomy 9
Endocardial fibroelastosis, Hydronephrosis, Dextrocardia, Micromelia, Renal dysplasia, Ventricula... ORPHA:99776
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Preaxial polydactyly, Ventriculomegaly, Polydactyly, Onychogryposis, Talipes... OMIM:603671
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Coxa valga, Carious teeth, Hyperphosphaturia, Pulmonic stenosis, Hypoplasia of teeth,... OMIM:613312
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Anal atresia, Short stature, Bicuspid aortic valve, Bilateral microphthalmos, U... OMIM:619318
Walker-Warburg Syndrome
Anophthalmia, Metatarsus valgus, Chorioretinal dysplasia, Abnormality of the optic nerve, Low-set... ORPHA:899
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Thin u... OMIM:601005
Noonan Syndrome 11
Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis, Sh... OMIM:618499
Charge Syndrome
Dysplastic tricuspid valve, Hydronephrosis, Short thumb, Double outlet right ventricle, Ventricul... OMIM:214800
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Congenital hip dislocation,... OMIM:601450
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Abnormally large globe, Increased overbite, Ventricular septal defect OMIM:618504
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Thin upper lip vermilion... OMIM:617877
22Q11.2 Deletion Syndrome
Foot polydactyly, Long philtrum, Tricuspid atresia, Abnormal aortic valve morphology, Polycystic ... ORPHA:567
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Polycystic kidney dysplasia, Mesomelic arm shortening... ORPHA:3103
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Atrial septal defect, Microphthalmia, Recurrent urinary trac... OMIM:611961
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Short philtrum, Abnormal oral frenulu... ORPHA:1617
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Lethargy, Increased level of methylsuccinic acid in urine, Ethyl... ORPHA:26792
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Intrauterine growth retardation, Micropenis, Short stature, Short middle phalanx o... OMIM:612626
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Patent ductus arteriosus, Atrial septal defect, Growth delay, Double o... OMIM:614886
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Long philtrum, Tetralogy of ... OMIM:239711
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Micropenis, Growth delay, Do... ORPHA:2326
Coffin-Siris Syndrome 5
Short philtrum, Intrauterine growth retardation, Atrial septal defect, Sandal gap, Thick lower li... OMIM:616938
Renpenning Syndrome
Narrow mouth, Short philtrum, Abnormal thumb morphology, Severe short stature, Clinodactyly of th... ORPHA:3242
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Preaxial foot polydactyly, Broad hallux, Abnormal heart morphology, P... OMIM:175700
Distal Monosomy 13Q
Holoprosencephaly, Anencephaly, Aplasia/Hypoplasia affecting the eye, Encephalocele ORPHA:1590
Cardiofacioneurodevelopmental Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Pulmonic stenosis, Cleft lip, Abdominal situs inve... OMIM:619123
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, Small thenar eminence, Patent foramen ovale, 2-3 toe syndactyly, Sandal gap, Renal... OMIM:618914
Faciocardiomelic Syndrome
Long philtrum, Polydactyly, Hypoplastic pelvis, Slender long bone, Dental malocclusion, Common at... OMIM:612731
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Long philtrum, Atrial septal defect, Renal hypoplasia, Everted l... ORPHA:75389
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Abnormal heart morphology, Clinodactyly of the 5th finger, Intrauterine growth retardation, Cleft... ORPHA:231147
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Pulmonic stenosis, Short stature, Complete duplica... OMIM:268250
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Hypertrophic cardiomyopathy, Optic atrophy, Lethargy OMIM:618228
Marden-Walker Syndrome
Narrow mouth, High palate, Intrauterine growth retardation, Long philtrum, Micropenis, Renal hypo... OMIM:248700
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Low-set ears, Hydrocephalus OMIM:300884
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Transketolase Deficiency
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal corona... ORPHA:488618
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Atrial septal defect, Postaxial hand polydact... OMIM:615981
Joubert Syndrome 14
Hydrocephalus, Renal cyst, Low-set ears, Morning glory anomaly, Growth delay, Highly arched eyebr... OMIM:614424
Lambotte Syndrome
Narrow mouth, Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly OMIM:245552
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Cleft palate, Dysplastic pulmonary valve OMIM:300958
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Hydronephrosis, Everted lower lip vermilion, Dextrocardia, Hyperechogenic... OMIM:619534
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Cam... ORPHA:1759
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Weill-Marchesani Syndrome 3
Brachydactyly, Pulmonic stenosis, Short stature, Microspherophakia, Aortic valve stenosis OMIM:614819
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Midline n... OMIM:129540
Joubert Syndrome With Ocular Defect
Foot polydactyly, Aganglionic megacolon, Hand polydactyly, Dextrocardia, Highly arched eyebrow, L... ORPHA:220493
Kabuki Syndrome 2
Brachydactyly, High palate, Horseshoe kidney, Intrauterine growth retardation, Atrial septal defe... OMIM:300867
Bardet-Biedl Syndrome 4
Brachydactyly, Renal cyst, Abnormality of the kidney, Polydactyly, Abnormality of the dentition, ... OMIM:615982
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:617044
Turnpenny-Fry Syndrome
Clinodactyly, Tapered finger, Widely spaced teeth, Microdontia, Small hand, Thin upper lip vermil... OMIM:618371
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Fifth finger distal phalanx clinodactyly, Broad secondary alveolar ridge, Short stat... ORPHA:3369
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Clinodactyly of the 5th finger, Coarctation of aorta, Polydactyly,... OMIM:301022
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Single transverse palmar crease, 2-3 toe syndactyly, Intestina... OMIM:617866
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Intestinal malrotation, Hypoplasia of penis, Micro... ORPHA:2328
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Patent foramen ovale, Atrial septal defect, Short distal phalanx of ... OMIM:614261
Tyshchenko Syndrome
High palate, Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, High, narr... OMIM:615102
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Retinal dysplasia, Ventriculomegaly, Microphthalmia, Hydrocephalus ORPHA:324416
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Small hypothenar eminence, Horseshoe kidney, Intrauterine growth retardation... OMIM:612562
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Intrauterine growth retardation, Microphthalmia, Short stature, Optic disc pallor, M... OMIM:616171
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Solitary median maxillary central incisor, Long philtrum, Widely space... ORPHA:66625
Fryns Syndrome
Long philtrum, Clinodactyly of the 5th finger, Hydronephrosis, Tented upper lip vermilion, Multic... ORPHA:2059
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septa... OMIM:618974
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, High palate, Single transverse palmar crease, Patent foramen ovale, ... OMIM:618950
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Intrauterine growth retardation, Atrial septal defect, Clinodactyly ... ORPHA:521308
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Conotruncal defect, Aplasia/hypoplasia involving bones of the l... ORPHA:40366
Polyvalvular Heart Disease Syndrome
High palate, Short philtrum, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve pro... ORPHA:228410
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Intrauterine growth retardation, Patent ductus arteriosus, ... ORPHA:1972
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Single transverse palmar crease, Long philtrum, Patent ductus arteriosus, Atrial se... OMIM:615502
Orofaciodigital Syndrome Type 5
Bifid uvula, High, narrow palate, Ectopic accessory finger-like appendage, Accessory oral frenulu... ORPHA:2919
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Finger syndactyly, Intrauterine growth retardation, Non-midline cleft lip, A... ORPHA:1908
Warsaw Breakage Syndrome
Clinodactyly, Tetralogy of Fallot, High palate, Single transverse palmar crease, 2-3 toe syndacty... OMIM:613398
Cat Eye Syndrome
Renal agenesis, Total anomalous pulmonary venous return, Absent radius, Intestinal malrotation, A... OMIM:115470
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Renal agenesis, Central Y-shaped metacarpal, Accesso... OMIM:277170
Roifman Syndrome
Brachydactyly, Single transverse palmar crease, Intrauterine growth retardation, Long philtrum, S... OMIM:616651
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Recurrent otitis media, Dextrocardia, Situs inversus totalis OMIM:615067
Noonan Syndrome 3
High palate, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Hypertrophic c... OMIM:609942
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Intrauterine growth retardation, Polydactyly, Microphthalmi... OMIM:603194
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, High palate, Clinodactyly of the 5th finger, Short stature, Ventricular se... OMIM:314320
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia OMIM:616428
Weill-Marchesani Syndrome
Brachydactyly, Short thumb, Pulmonic stenosis, Short stature, Ventricular septal defect, Aortic v... ORPHA:3449
Desbuquois Syndrome
Coxa valga, Disproportionate short-limb short stature, Severe short stature, Clinodactyly of the ... ORPHA:1425
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Postaxial foot polydactyly, 2-3 toe syndactyly, Long philtrum, Intestinal malrotatio... ORPHA:404440
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Hypoplasia of penis, Micromelia, Hypoplastic left heart, Ventric... ORPHA:2772
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis, Rectovaginal fistula, Short philtrum, Widely-spaced ma... OMIM:608980
Primary Ciliary Dyskinesia
Clubbing, Intestinal malrotation, Situs inversus totalis, Double outlet right ventricle, Abnormal... ORPHA:244
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Short ... ORPHA:1106
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
16P12.1P12.3 Triplication Syndrome
Brachydactyly, Abnormal tricuspid valve morphology, 2-3 toe syndactyly, Intrauterine growth retar... ORPHA:485405
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Recurrent otitis media, Neonatal sho... OMIM:100800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Severe postnatal growth retardation, Hydronephrosis, Polycystic kidney... ORPHA:2237
Cerebrooculofacioskeletal Syndrome 4
Short philtrum, Camptodactyly of finger, Intrauterine growth retardation, Dislocated radial head,... OMIM:610758
Char Syndrome
Toe syndactyly, Thick vermilion border, Short philtrum, Patent ductus arteriosus, Clinodactyly of... ORPHA:46627
Mucolipidosis Type Iii
Abnormal hip bone morphology, Hypoplastic inferior ilia, Abnormal heart valve morphology, Abnorma... ORPHA:577
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Growth delay, Hypoplastic left heart, Ventricular septal def... ORPHA:1727
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Tetralogy of Fallot, Axial malrotation of the kidney, Coxa valga, Phocomelia, Absent ... ORPHA:3320
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Upper ... OMIM:613630
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cystic renal dysplasia, Tubulointerstitial nephritis, Myoglobinur... ORPHA:228308
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, Nephronophthisis, Renal cyst, Bifid uvula, High palate, Short femoral ne... OMIM:266920
Rhizomelic Limb Shortening With Dysmorphic Features
Single transverse palmar crease, Patent foramen ovale, Long philtrum, Rhizomelia, Short 5th finge... OMIM:618821
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Orofaciodigital Syndrome V
High palate, Tetralogy of Fallot, Bifid uvula, Horseshoe kidney, Postaxial foot polydactyly, Sand... OMIM:174300
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, High palate, Foot polydactyly, Intrauterine growth retardat... ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Ventriculomegaly, Hydrocephalus OMIM:614830
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Bifid uvula, Atrial septal defect, Pulmonic stenosis, Submucous cleft hard palate OMIM:619239
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Atrial septal defect, Arachnodactyly, Short stature, Cleft palate ORPHA:93946
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Pulmonic stenosis, Hydroureter OMIM:264140
Pelvis-Shoulder Dysplasia
Hydronephrosis, Spina bifida, Retinal coloboma, Hypoplastic pubic bone, Aplasia/Hypoplasia of the... ORPHA:2839
Fetal Alcohol Syndrome
Intrauterine growth retardation, Non-midline cleft lip, Atrial septal defect, Microdontia, Microp... ORPHA:1915
X-Linked Intellectual Disability, Nascimento Type
Bilateral talipes equinovarus, Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosu... ORPHA:163956
Bresek Syndrome
Intrauterine growth retardation, Low-set ears, Renal hypoplasia, Optic nerve hypoplasia, Aganglio... ORPHA:85284
Grange Syndrome
Short palm, Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Syndactyly ORPHA:79094
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Dextrocardia, Situs inversus totalis, Absent inner and outer dynei... OMIM:618063
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Abnormal respiratory motile cilium morphology, Situs inversus totalis OMIM:612518
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Brachydactyly, Renal cyst, Horseshoe kidney, Intrauterine growth retardation, Short metacarpal, M... ORPHA:166035
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Patent ductus arteriosus, Micropenis, Duplication of phalanx of h... OMIM:243310
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, High palate, Single transverse palmar crease, Micropenis, Broad palm, Tapered finge... OMIM:300209
Melnick-Needles Syndrome
Ureteral stenosis, Coxa valga, Delayed eruption of teeth, Cone-shaped epiphyses of the phalanges ... OMIM:309350
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Sensorineural hearing impairment,... ORPHA:49827
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Renal malrotation, Radial club hand, Sandal gap, Short thumb, Short di... ORPHA:959
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Talipes equinovarus, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Median cleft lip OMIM:619452
Cat-Eye Syndrome
Intrauterine growth retardation, Hydronephrosis, Anal atresia, Microphthalmia, Abnormal localizat... ORPHA:195
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia, Low-set, posteriorly rotated ears, ... ORPHA:1528
Meckel Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Anophthalmia, Postaxial foot polydact... ORPHA:564
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Aplastic clavicle, Preaxial polydactyly, Micromelia, Postaxial ... OMIM:616546
Tarp Syndrome
Tongue nodules, Clinodactyly, Tetralogy of Fallot, High palate, Single transverse palmar crease, ... OMIM:311900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... ORPHA:2255
Paternal Uniparental Disomy Of Chromosome 5
Renal duplication, Rhizomelic arm shortening, Abnormally large globe, Secundum atrial septal defe... ORPHA:96190
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Solitary median maxillary central incisor, Patent foramen ovale, Patent du... OMIM:301043
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the e... ORPHA:1104
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Even-Plus Syndrome
High palate, Patent foramen ovale, Atrial septal defect, Renal hypoplasia, Dysplasia of the femor... OMIM:616854
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Dextrocardia, Situs inversus totalis OMIM:614679
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Clinodactyly, Acromicria, Intrauterine growth retardation, Abnormal heart morphology, Small hand,... ORPHA:254525
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Growth... ORPHA:980
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Abnormal pericardium morphology, Non-midline cleft lip, Atri... ORPHA:1335
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Micropenis, Tapered finger, Aganglionic megacolon... OMIM:613870
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Long philtrum, Open bite, Sandal gap, Clinodactyly of the 5th finge... ORPHA:1507
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Thauvin-Robinet-Faivre Syndrome
Bowing of the legs, Renal cyst, Bifid ureter, Renal malrotation, Mitral valve prolapse, Long hall... OMIM:617107
Aortic Arch Interruption
Aortic valve atresia, Patent ductus arteriosus, Aortopulmonary window, Double outlet right ventri... ORPHA:2299
Meckel Syndrome, Type 7
Postaxial foot polydactyly, Patent ductus arteriosus, Multiple glomerular cysts, Atrial septal de... OMIM:267010
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis,... OMIM:618223
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Polydactyly OMIM:615989
Pineocytoma
Hearing abnormality, Increased CSF protein, Hydrocephalus ORPHA:251912
Acrocallosal Syndrome
Long philtrum, Clinodactyly of the 5th finger, Tapered finger, Cleft palate, Triangular mouth, Br... OMIM:200990
Ciliary Dyskinesia, Primary, 14