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
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Delayed puberty, Brachydacty... OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb ... ORPHA:294975
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte... ORPHA:401935
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the g... OMIM:231060
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Renal agenesis, Intrauterine growth retardat... ORPHA:2516
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Clinodacty... OMIM:619143
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Renal agenesis, Long philtrum, Intrauterine gro... OMIM:615583
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Truncus arteriosus, Ventricular septal... OMIM:601355
Meckel Syndrome, Type 8
Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Polydactyly, Talipes equinovarus, Micropht... OMIM:613885
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ca... OMIM:619142
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ... ORPHA:210122
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... OMIM:618142
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Cleft upper lip, Microphthalmia, Co... OMIM:264480
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, S... OMIM:611867
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Anophthalmia, Ventricular septal defect, Microph... OMIM:615524
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,... ORPHA:2008
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Short foot, Hip dislocation, Aplasia/Hypopl... ORPHA:3474
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Micropht... ORPHA:3434
Robinow Syndrome
Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in eruption of perma... ORPHA:97360
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne... OMIM:225500
Distal Deletion 19P
Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Long toe, Pulmonary valve at... ORPHA:96129
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Brachydactyly... OMIM:616589
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis OMIM:614844
Sandestig-Stefanova Syndrome
Clinodactyly, Muscular ventricular septal defect, Intrauterine growth retardation, Bilateral sing... OMIM:618804
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod... ORPHA:3378
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Velopharyngeal insufficiency, Thick upper lip vermilion, Overlapping toe, Atrial s... ORPHA:363444
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Narrow mouth, Heterotaxy, Tr... ORPHA:3426
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Everted lower lip vermilion, S... OMIM:249670
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Atrial septal defect, Single ventricle, Patent ductus ar... OMIM:601186
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl... ORPHA:1937
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Single transverse palmar crease, Adducted thumb, Brachydactyl... OMIM:620062
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu... OMIM:619343
Sonoda Syndrome
Short stature, Narrow mouth, High axial triradius, Ventricular septal defect OMIM:270460
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... OMIM:265380
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve mo... ORPHA:1354
Joubert Syndrome 18
Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Ventricular septal defect, Bow... OMIM:614815
Trisomy 17P
Aortic valve stenosis, Narrow mouth, High palate, Polycystic kidney dysplasia, Patent ductus arte... ORPHA:261290
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Oro... ORPHA:3427
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Ren... ORPHA:2538
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s... OMIM:190685
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Abnorma... ORPHA:1166
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Small hand, Right ventricular dilatation, Prominent fingertip pads, Sandal g... OMIM:612863
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly, Right aortic arc... OMIM:608978
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi... OMIM:614326
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Renal insuffici... OMIM:617478
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... OMIM:619657
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, ... ORPHA:3316
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ... OMIM:146510
8P23.1 Duplication Syndrome
Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Th... ORPHA:251076
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short sta... ORPHA:391646
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, D... OMIM:609029
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardio... OMIM:620642
Feingold Syndrome Type 1
Toe syndactyly, Multiple muscular ventricular septal defects, Abnormality of the kidney, Anal atr... ORPHA:391641
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Femoral bowing, Situs inversus totalis, Hepat... OMIM:615415
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Intrauterine growth retardation, Wide mouth, Ventricula... OMIM:301030
Meckel Syndrome, Type 4
Intrauterine growth retardation, Ventricular septal defect, Bowing of the long bones, Renal cyst,... OMIM:611134
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Mic... OMIM:617516
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial deviation of the 2n... ORPHA:1388
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,... OMIM:615996
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Duplicated collecting system, Micropenis OMIM:620071
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Hand polydactyly, Clef... OMIM:236110
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Hydrocephalus, Holoprosen... OMIM:609637
Meier-Gorlin Syndrome 7
Narrow mouth, Ventricular septal defect, Urethral stricture, Aplasia/Hypoplasia of the patella, M... OMIM:617063
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Sandal gap, Intrauterine growth retardation, Ventric... ORPHA:2515
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Carious teeth, Downturned corners of mouth, Multiple muscular ventricular s... OMIM:620070
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve pr... OMIM:173900
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Ventricular septal defect, Atrial septal defect, Anal a... ORPHA:96170
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Overlapping t... OMIM:618316
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... OMIM:607323
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger,... ORPHA:261344
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormality of the dentition, Small hand, Disproportionate short stature, Dental crowding, Abnorm... ORPHA:2868
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,... ORPHA:3469
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Hamartoma of tong... OMIM:617925
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Unilateral radial aplasia, Eruption failure, Long philtrum, Dental ... ORPHA:476126
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Talipes e... OMIM:206920
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Monosomy 13Q34
Postaxial foot polydactyly, Growth delay, Postaxial hand polydactyly, Common atrium, Fetal pyelec... ORPHA:96168
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d... ORPHA:2473
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Intrauterine growth ... ORPHA:314588
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Persi... ORPHA:3304
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplication of p... OMIM:263630
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Long philtru... ORPHA:1988
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Hydronephrosis, Persistent left superior vena cava,... OMIM:314390
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephro... OMIM:613390
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Bilateral single ... ORPHA:3033
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de... ORPHA:477817
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Hamamy Syndrome
Dental malocclusion, Long philtrum, Complete atrioventricular canal defect, High palate, Down-slo... OMIM:611174
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve m... ORPHA:1919
Joubert Syndrome 15
Nephronophthisis, Preaxial polydactyly, Retinopathy, Exencephaly, Micropenis, Retinal dystrophy OMIM:614464
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Wide mouth... ORPHA:2549
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Ventricular septal defect, Short hallux, Abnormality of ... ORPHA:508488
Biemond Syndrome Type 2
Preaxial polydactyly, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature, Hypospadias ORPHA:141333
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Mi... ORPHA:508498
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Growth delay, Postaxial oligodactyly, Talipes equinovarus, Atrial septal defect... ORPHA:52056
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... OMIM:270100
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Tetralogy Of Fallot
Tetralogy of Fallot, Intrauterine growth retardation, Brachydactyly, Thin vermilion border, Clino... ORPHA:3303
Maternal Phenylketonuria
Hypoplastic left heart, Clinodactyly, Long philtrum, Tetralogy of Fallot, Abnormal heart morpholo... ORPHA:2209
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of... OMIM:617926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atre... ORPHA:77298
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect OMIM:613730
Faciocardiorenal Syndrome
Horseshoe kidney, Endocardial fibroelastosis, Narrow mouth, Tricuspid valve prolapse, Smooth phil... ORPHA:1973
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal... OMIM:613095
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Small hand, Clinodactyly, Anteriorly placed anus, Aortic valve prol... OMIM:619980
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Microphthalmia, Pat... ORPHA:2712
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes equinovarus, ... OMIM:301056
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Smooth philtrum, Narrow greater sciatic notch, Ulnar deviation of the ... OMIM:263210
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla... OMIM:600001
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Long ... OMIM:618494
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricul... ORPHA:261120
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... ORPHA:261243
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ... OMIM:277740
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, Complete atri... OMIM:236680
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Atrial septal defect, Mi... OMIM:300887
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Single transverse palmar crease, Atrial septal defect, High p... OMIM:618354
Leopard Syndrome 1
Unilateral renal agenesis, Hypertrophic cardiomyopathy, Delayed menarche, Complete atrioventricul... OMIM:151100
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Ventri... OMIM:612946
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Abnormal heart morphology, Intrauterine growth reta... OMIM:214110
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty... OMIM:263520
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... OMIM:235750
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Tetralogy of Fallot, Mitral v... OMIM:612561
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Renal agenesis, Finger clinodactyly, Preaxial polydactyly,... ORPHA:2754
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Dextrocardia, Low-set, posteriorly rotated ears, Myelomeningocele, Uretera... ORPHA:2437
Nemaline Myopathy 9
High palate, Cleft palate, Ventricular septal defect OMIM:615731
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Polydactyly, Ventricular septal defect, Smooth philtrum, Microphthalmia, Syndactyly OMIM:602501
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Villous atrophy, Wide mouth, Atrial septal defect, Pericardial effusion, Polycysti... OMIM:608776
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cat Eye Syndrome
Ventricular septal defect, Atrial septal defect, Rectal atresia, Absent radius, Microphthalmia, A... OMIM:115470
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, 2-3 fin... ORPHA:1692
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasi... OMIM:311200
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Ventricular septal defect, Limited elbow movement, Talip... OMIM:134780
Distal Deletion 15Q
Multicystic kidney dysplasia, Small hand, Postnatal growth retardation, Genu valgum, Bicuspid aor... ORPHA:1596
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Stage 5 chronic ... OMIM:615994
Kapur-Toriello Syndrome
Joint contracture of the hand, Abnormality of the urinary system, Short thumb, Cleft upper lip, C... OMIM:244300
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ... OMIM:618280
Mosaic Trisomy 20
Cleft lip, Clinodactyly, Horseshoe kidney, Intrauterine growth retardation, Abnormal mitral valve... ORPHA:1724
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent urinar... ORPHA:2970
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Bilateral single transverse palmar creases,... ORPHA:1913
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epip... OMIM:613091
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:616730
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Abnormal cardiac septum morphology, Postaxial hand polyd... ORPHA:83473
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Narrow mouth, Abnormal m... ORPHA:2370
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Single ventricle, Mi... OMIM:619879
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ... OMIM:614262
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Single transverse palmar crease, Ventricular sept... OMIM:619717
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Ventricular septal de... OMIM:300166
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Lethargy, Retinopathy ORPHA:26
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Abnormal mitral valve mor... ORPHA:7
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Short 5th finger, Short distal phalanx of fing... OMIM:220500
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Elevated urinary dihydrothymine level, Lethargy, Microphthalmia, Uraciluria, Growt... OMIM:274270
Sotos Syndrome
High, narrow palate, Narrow palate, Long metacarpals, Muscular ventricular septal defect, Genu va... OMIM:117550
Li-Campeau Syndrome
Patellar hypoplasia, Long philtrum, Patent foramen ovale, Ventricular septal defect, Single trans... OMIM:619189
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal hair morphology, Spina bifida, ... ORPHA:64754
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Smoot... OMIM:618652
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Ventricular septal defect, Re... ORPHA:289
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Submucous cleft ha... OMIM:619227
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Microphthalmi... ORPHA:261272
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal def... ORPHA:435638
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Clinodactyly, IgA deposition in the glomerulus, Ventricular se... OMIM:618348
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Abnormality of the urinary system, Deviation of finger, Abnormal tric... ORPHA:2412
Abruzzo-Erickson Syndrome
Ulnar deviation of finger, Toe syndactyly, Short toe, Abnormal palate morphology, Radioulnar syno... ORPHA:921
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Muscular ventricu... OMIM:618569
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis morph... ORPHA:93267
Gillespie Syndrome
Hypoplasia of the iris, Aniridia, Truncus arteriosus OMIM:206700
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Alopecia, Anophthalmia, Orbital encephalocele, Microphthalmia, Dandy-... OMIM:164180
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Temple-Baraitser Syndrome
Short distal phalanx of finger, Broad thumb, Broad hallux, Downturned corners of mouth, Long phil... OMIM:611816
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Long philtrum, Ventricular septal defect, Thin upper lip vermil... OMIM:616652
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Broad alveolar ridges, Delayed eruption of teeth, Camptodactyly of finger, ... ORPHA:2863
Vater/Vacterl Association
Postnatal growth retardation, Ventricular septal defect, Radioulnar synostosis, Absent radius, An... OMIM:192350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:615938
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel... OMIM:608227
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... OMIM:616898
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Mitral valve prol... ORPHA:371428
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Frontonasal Dysplasia 1
Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Tetralogy of Fallot, Pec... OMIM:136760
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Genu valgum, Abnormal palate morphology, Anal atresia, Aplasia/Hypoplasia of... ORPHA:1381
Frank-Ter Haar Syndrome
Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Talipes equinovarus, ... OMIM:249420
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Chromosome 3Pter-P25 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Postnatal growth retar... OMIM:613792
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro... OMIM:175700
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect ORPHA:1918
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... OMIM:201000
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Oligodontia, Thin upper lip vermilion, Atrial septal defect, Short sta... OMIM:618330
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Bowing of the l... OMIM:249000
Trisomy X
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Atrial septal ... ORPHA:3375
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp... OMIM:600987
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... OMIM:615503
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, Renal cyst, Sho... OMIM:615993
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Microphthalmia ORPHA:2117
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Joubert Syndrome 39
Hypoplastic left heart, Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of ... OMIM:619562
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Postaxial polydactyly, ... OMIM:616546
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Widely spaced teeth, Postnatal growth retardation, Intrauterine gro... ORPHA:2728
Congenital Rubella Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Atria... ORPHA:290
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu... OMIM:620393
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus OMIM:615542
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Ventricular septal defect, Talipes equino... OMIM:601808
8Q12 Microduplication Syndrome
Long philtrum, Vesicoureteral reflux, Narrow mouth, Ventricular septal defect, Atrial septal defe... ORPHA:228399
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Horseshoe kidney, Intrauterine... OMIM:609053
Hydrolethalus
Low-set ears, Micromelia, Low-set, posteriorly rotated ears, Anophthalmia, Tracheal atresia, Hydr... ORPHA:2189
Joubert Syndrome 14
Open mouth, Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Renal c... OMIM:614424
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Tapered toe, Dilated cardiomyopathy, Renal dysplasia, Elbow flexion contracture, R... OMIM:608836
Teebi-Shaltout Syndrome
Aortic valve stenosis, Caudal appendage, Narrow mouth, Ventricular septal defect, Talipes equinov... OMIM:272950
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft p... OMIM:616570
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Ventric... OMIM:210710
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard... OMIM:272440
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Intestinal malrotation, Stage 5 chronic kidney disease, S... OMIM:208540
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Atrial septal defect, Broad fingerti... ORPHA:2044
Lowry-Maclean Syndrome
Abnormal heart morphology, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate OMIM:600252
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Mosaic Trisomy 9
Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, At... ORPHA:99776
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Alg12-Cdg
Sandal gap, Biventricular hypertrophy, Muscular ventricular septal defect, Ulnar deviation of the... ORPHA:79324
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Broad thumb, Growth delay, Tetralogy of Fallot, Hypertrophic cardiomyopat... ORPHA:251071
Microphthalmia/Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia OMIM:616428
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect, Intrauterine growth retardation, 3-Me... ORPHA:66634
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Microphthalmia, Anal atresia, Flat acetabular roof, Patent ductus arter... OMIM:616300
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Phelan-Mcdermid Syndrome
Dental malocclusion, Long philtrum, Widely spaced teeth, Vesicoureteral reflux, Ventricular septa... OMIM:606232
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Downturned corners of mouth, Intrauterine growth retardation, Brach... ORPHA:2075
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Atrial septal defect, Short stature, Short metatarsal OMIM:113301
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Brachydactyly, Rod-cone dystrophy, Micropenis, Syndactyly OMIM:615983
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly OMIM:615937
Walker-Warburg Syndrome
Low-set ears, Optic atrophy, Ventriculomegaly, Abnormal optic nerve morphology, Metatarsus valgus... ORPHA:899
Distal Deletion 12Q
Overlapping toe, Micropenis, Large hands, Ectopic kidney, Duodenal atresia, Polycystic kidney dys... ORPHA:96149
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Hypospadias, Situs inversus totalis, Renal dysplasia OMIM:615985
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly, Atrial septal... OMIM:614526
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Recurrent urinary tract infections, Horseshoe kidney, Thick lower lip vermi... OMIM:619103
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Abnormally large globe, Increased overbite, Ventricular septal defect,... OMIM:618504
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atri... ORPHA:567
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... OMIM:620135
Charge Syndrome
Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Ventricular septal defect,... OMIM:214800
16P12.1P12.3 Triplication Syndrome
Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Abnormal heart mo... ORPHA:485405
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
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, High p... OMIM:612474
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Cardiomyopathy, Intrauterine growth retardation, Increased level of methylsuccinic... ORPHA:26792
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Macrotia, Microphthalmia OMIM:600776
Renpenning Syndrome
Severe short stature, High, narrow palate, Growth delay, Macrodontia, Narrow mouth, Abnormal thum... ORPHA:3242
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Hydronephrosis, Renal... ORPHA:1926
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cleft upper lip, Narrow mouth, Ventricu... OMIM:608572
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Ta... ORPHA:3306
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Hajdu-Cheney Syndrome
Foot acroosteolysis, Dental malocclusion, Long philtrum, Intestinal malrotation, Genu valgum, Fib... OMIM:102500
Chromosome 15Q26-Qter Deletion Syndrome
Intrauterine growth retardation, Talipes equinovarus, Short stature, Brachydactyly, Abnormal card... OMIM:612626
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi... ORPHA:3103
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Sandal gap, Joint contracture of the 5th finger, Patent foramen ovale, Joint co... OMIM:618914
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, ... OMIM:615982
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Ventricular septal defect... OMIM:620511
Suleiman-El-Hattab Syndrome
Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Patent foram... OMIM:618950
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Growth delay, Renal agenesis, Anomalous orig... ORPHA:2326
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Recurrent urinary tract infections, M... OMIM:611961
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Toe syndactyly, Broad thumb, Long philtrum, Ankyloglossia, Intrauterine ... ORPHA:250989
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Long philtrum, Carpal synostosis, Muscular ventricular septal defect, Hors... OMIM:157800
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Lambert Syndrome
Intrauterine growth retardation, Wide mouth, Hypospadias, Ventricular septal defect ORPHA:1296
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Micromelia, Abnormality of the ureter, Genu valgum, Arachnodactyly, Atrial septal def... ORPHA:1035
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Situs inversus totalis, De... OMIM:614679
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ... OMIM:615981
Faciocardiomelic Syndrome
Dental malocclusion, Slender long bone, Long philtrum, Hypoplastic pelvis, Polydactyly, Common at... OMIM:612731
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the ureter, Bilateral single transverse palmar creases, Ventricular s... ORPHA:1770
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid aortic valve, Sho... OMIM:619318
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R... ORPHA:139466
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Situs inversu... OMIM:611884
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Abnormality of the ear, Hydrocephalus OMIM:600257
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Retinal coloboma, Low-set, posteriorly rotated ears, Encephalocele, Agangl... ORPHA:220493
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Talipes equinovarus, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Lambotte Syndrome
Preaxial foot polydactyly, Intrauterine growth retardation, Narrow mouth, Ventricular septal defect OMIM:245552
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Fryns Syndrome
Multicystic kidney dysplasia, Microphthalmia, Anal atresia, High palate, Hypospadias, Non-midline... ORPHA:2059
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Hearing impairment, Sparse body hair, Hydrocephalus, Abnormal eyelash morph... ORPHA:1008
Kapur-Toriello Syndrome
Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Orofacial cleft, Micropht... ORPHA:2328
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Dysplastic pulmonary valve, Cleft palate, Cleft upper lip OMIM:300958
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis, Anteriorly placed anus, Widely-spaced maxillary centra... OMIM:608980
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Broad thumb, Widely spaced teeth, Atrioventricular canal defect, Pr... OMIM:617364
Ciliary Dyskinesia, Primary, 12
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Situs i... OMIM:612650
Weill-Marchesani Syndrome
Aortic valve stenosis, Short thumb, Ventricular septal defect, Brachydactyly, Short stature, Pulm... ORPHA:3449
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Br... OMIM:619123
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Marden-Walker Syndrome
High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Long philtrum, Postnatal gr... OMIM:248700
Transketolase Deficiency
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... ORPHA:488618
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal hip bone morphology, Abnormal aortic valve morphology, ... ORPHA:577
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Horseshoe kidney, Ankyl... OMIM:174300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Long philtrum, Intrauterine growth retardation, Ventricular septal defect, Pulm... ORPHA:75389
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Atrioventricular canal defect, Conotruncal defect, Aplasia/hypoplas... ORPHA:40366
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Microphthalmia, Retinal dysplasia ORPHA:324416
Kabuki Syndrome 2
Short 5th finger, Natal tooth, Prominent fingertip pads, Dental malocclusion, Atrioventricular ca... OMIM:300867
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Thick vermilion borde... OMIM:618499
Paternal Uniparental Disomy Of Chromosome 5
Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Renal duplicati... ORPHA:96190
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Hyperechogenic kidneys, Intestinal malrotation, ... OMIM:617866
Developmental And Epileptic Encephalopathy 36
Low-set ears, Optic atrophy, Small hand, Hydrocephalus OMIM:300884
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Horse... OMIM:612562
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Sandal gap, Thick lower lip vermilion, Intrauterine growth retard... OMIM:616938
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Prominent fingertip pads, Stage 1 chronic kidney disease, Short thu... OMIM:618821
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te... ORPHA:46627
Kondoh Syndrome
Interphalangeal joint contracture of finger, Long philtrum, Preaxial hand polydactyly, Intrauteri... OMIM:606242
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelvis, Dark urine... OMIM:619534
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Otitis media,... OMIM:613807
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Tetrasomy 15Q26
Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Arachnodactyly, Atrial septal ... OMIM:614846
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Epiphyseal stippling, Single transverse palmar crease, Ventricul... OMIM:614866
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short distal phalanx of finger, Hearing impairment, Myelomeningocele, Intrauterine... ORPHA:1914
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,... ORPHA:228308
Craniotelencephalic Dysplasia
Optic atrophy, Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele, Microphth... ORPHA:1528
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Double outlet right ventricle, Atrial septal defect, Short stature, Gr... OMIM:614886
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Intrauterine growth retardation, Retinopathy, Talipes equinovarus, Macular atrophy... OMIM:616171
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Intrauterine growth retardation, Ventricular septal defect, Renal cyst, Metaphy... ORPHA:166035
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... OMIM:618506
Distal Deletion 13Q
Holoprosencephaly, Anencephaly, Encephalocele, Aplasia/Hypoplasia affecting the eye ORPHA:1590
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Talipes equinovarus, Aplasia/hypoplasia of the femur, D... ORPHA:2839
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Intrauterine growth retardation, Ventricular septal defect, A... OMIM:615102
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial septal defect, Th... OMIM:618974
Roifman Syndrome
Short toe, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Irregular fe... OMIM:616651
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Chronic otitis media, Abnormal respiratory motile cilium morphology OMIM:612518
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing... ORPHA:1507
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fal... ORPHA:3320
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Postnatal growth retardat... OMIM:610832
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef... ORPHA:2919
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Broad secondary alveolar ridge, Postnatal growth retard... ORPHA:3369
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Short stature, Hip dislocation, Pulmonic stenosis,... OMIM:268250
Bardet-Biedl Syndrome 14
Renal insufficiency, Rod-cone dystrophy, Polydactyly OMIM:615991
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Short 5th finger, Microglossia, Sandal gap, Short tibia, Short thumb, Rad... ORPHA:1972
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Warsaw Breakage Syndrome
Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardation, Single transv... OMIM:613398
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydr... OMIM:613630
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi... OMIM:301022
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Mitral valve prolapse, S... ORPHA:228410
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Long philtrum, Cleft upper lip, Postnatal growth retardation, Wide mouth, ... OMIM:243310
Cat-Eye Syndrome
Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Micropht... ORPHA:195
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,... ORPHA:2237
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rotated ears, Anoph... ORPHA:1104
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Single transverse palmar crease, Coarctation of aorta, Atrial septal... OMIM:615502
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Tooth malposition, Delayed eruption of teet... OMIM:309350
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tach... ORPHA:49827
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... OMIM:219730
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Renal hypoplasia, Recurrent urinary tract infections,... OMIM:616854
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... ORPHA:980
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati... OMIM:619902
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial s... ORPHA:1915
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Clubbing of toes, Downturned corners of mouth, Tetralogy of... ORPHA:163956
Grange Syndrome
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly ORPHA:79094
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Desbuquois Syndrome
Severe short stature, Small hand, Disproportionate short-limb short stature, Elbow dislocation, C... ORPHA:1425
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preax... ORPHA:564
Vacterl With Hydrocephalus
Abnormality of the outer ear, Microtia, third degree, Abnormal optic nerve morphology, Anotia, In... ORPHA:3412
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormal respiratory motile cilium morphology OMIM:225050
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Postnatal... ORPHA:959
Bresek Syndrome
Low-set ears, Renal hypoplasia, Alopecia, Hearing impairment, Intrauterine growth retardation, Ve... ORPHA:85284
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Situs inversus totalis OMIM:615505
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Scapular... ORPHA:26791
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Abnormal heart morphology, Elbow f... OMIM:610758
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Short stature, Clinodactyly of the 5th finger, High palate, Broad alve... OMIM:314320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Retinal dysplasia, Hydrocephalus, Microphthalmia OMIM:614830
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Short toe, Sandal gap, Long philtrum, Short 5th metacarpal, Anterior open-bite m... OMIM:617877
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Arachnodactyly, Atrial septal defect, Short stature, Cleft palate ORPHA:93946
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Intestinal polyposis, Curved middle phalanx of the 4th toe, Tricus... ORPHA:276413
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Ulnar deviation of finger, Long philtrum, Camptodactyly of finger, Aniridia,... ORPHA:1101
Monosomy 18Q
Aortic valve stenosis, Open mouth, Arachnodactyly, Talipes equinovarus, High palate, Patent ductu... ORPHA:1600
Kury-Isidor Syndrome
Growth delay, Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, ... OMIM:619762
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Small hand, Clinodactyly, Downturned corners of mouth, Abnormal heart morphology, Postnatal growt... ORPHA:254525
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Microp... OMIM:619053
Cohen Syndrome
Finger syndactyly, Genu valgum, Open mouth, Mitral valve prolapse, Ventricular septal defect, Ara... ORPHA:193
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Disproportionate short-limb short stature, Micromelia, Intrauterine growt... ORPHA:2772
Pineocytoma
Increased CSF protein concentration, Hearing abnormality, Hydrocephalus ORPHA:251912
Marden-Walker Syndrome
Multicystic kidney dysplasia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Radioulnar... ORPHA:2461
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Postn... OMIM:200990
Congenital Toxoplasmosis
Ventriculomegaly, Hearing impairment, Intrauterine growth retardation, Abnormality of retinal pig... ORPHA:858
Tarp Syndrome