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Gene: Mmp21 MGI:2664387

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
matrix metallopeptidase 21
Synonyms:
b2b2458Clo,  b2b873Clo

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mmp21 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 associated to Mmp21 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749

The table below shows human diseases predicted to be associated to Mmp21 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Micrognathia, Ventricular septal defect, Transpositi... OMIM:231060
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short humerus, Isomerism,... OMIM:314390
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Micrognathia, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1913
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
Diabetic Embryopathy
Cleft palate, Micrognathia, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal ... ORPHA:1926
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Pierre Robin Syndrome
Glossoptosis, Cor pulmonale, Micrognathia, Cleft palate OMIM:261800
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricula... OMIM:306955
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... OMIM:220210
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... ORPHA:3426
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:270100
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1727
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Pulmonic stenosis, 11 pairs of ribs, Anterior open-bite malocclusion, Tra... OMIM:617877
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Micrognathia... ORPHA:3304
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... OMIM:619910
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Chronic sinusitis, Recurrent pneumonia, B... OMIM:613807
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Malar flattening, Tetralogy of Fallot, Mandibular prognathia, A... ORPHA:1919
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Malar flattening, Pulmonic stenosis, Microgn... OMIM:179613
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... ORPHA:251071
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Macroglossia OMIM:616789
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Arteria lusoria, Mitral valve prola... OMIM:212093
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... OMIM:600001
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, High palate OMIM:619995
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Trismus, Abnormal heart morphology OMIM:218450
Carpenter Syndrome 1
High palate, Atrial septal defect, Persistence of primary teeth, Aplasia/Hypoplasia of the middle... OMIM:201000
Thakker-Donnai Syndrome
Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Ventricular septal defect, Transpos... ORPHA:1780
Ververi-Brady Syndrome
High palate, Transposition of the great arteries OMIM:617982
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Patent duc... ORPHA:1880
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Thoracoabdominal Syndrome
Cleft palate, Ectopia cordis, Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of th... OMIM:313850
Cat-Eye Syndrome (Type I)
Anal atresia, Micrognathia, Abnormal heart morphology DECIPHER:42
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... ORPHA:2255
Short Rib-Polydactyly Syndrome
Cleft palate, Short ribs, Intestinal malrotation, Short tibia, Micromelia, Hepatic cysts, Situs i... ORPHA:1505
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypoplastic left heart, Micrognathia, Coarctation of ... ORPHA:2209
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Prominence of the premaxilla... OMIM:614886
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate OMIM:243440
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pu... ORPHA:1166
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Diamond-Blackfan Anemia 6
Atrial septal defect, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Tetralogy of Fallot,... OMIM:612561
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Fetal Encasement Syndrome
Lower limb undergrowth, Upper limb undergrowth, Tetralogy of Fallot OMIM:613630
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Morphologi... ORPHA:2847
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Down Syndrome
Double outlet right ventricle, Anal atresia, Short palm, Atrial septal defect, Macroglossia, Atri... OMIM:190685
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy, Malar flattening, Mandibular prognathia ORPHA:3242
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus... OMIM:612863
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... OMIM:217085
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot ORPHA:276422
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... ORPHA:2326
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Truncus arteriosus OMIM:228940
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Abnormal lung lo... ORPHA:2516
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum, Abnormal heart morphology OMIM:184800
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... ORPHA:1667
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hepatomegaly, Pulmonic stenosis, Retrognathia, Pulmonary artery at... OMIM:301056
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Tetraamelia Syndrome 2
Microretrognathia, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic pulmonary v... OMIM:618021
Hadziselimovic Syndrome
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... OMIM:612946
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... ORPHA:1666
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Atrial septal defect, Gastroesophageal reflux, Atrioventricular canal defect, Micro... OMIM:600123
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Chime Syndrome
Pulmonary valve atresia, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the toes, Cl... ORPHA:3474
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Tetralogy of Fallot ORPHA:1381
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... OMIM:619343
Facial Dysmorphism With Multiple Malformations
Anal atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries... OMIM:227255
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Noonan Syndrome 12
Ventricular septal defect, Anteriorly placed anus, 11 pairs of ribs, Tetralogy of Fallot OMIM:618624
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Cleft palate, Tetralogy of Fallot, Ventricular septal defec... OMIM:280000
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... OMIM:301043
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Cat Eye Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... OMIM:115470
Hypoglossia With Situs Inversus
High palate, Micrognathia, Situs inversus totalis, Microglossia, Polysplenia, Asplenia OMIM:612776
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower limbs, Amelia, Amelia in... ORPHA:1027
Cardioacrofacial Dysplasia 1
Limb undergrowth, Complete atrioventricular canal defect, Hypoplasia of the maxilla, Atrioventric... OMIM:619142
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... OMIM:265380
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... OMIM:618280
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Malar flattening, Micrognathia, Aglossia, Patent ductus arteriosus, Hypopla... OMIM:241310
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Pulmonic stenos... OMIM:618223
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip a... ORPHA:2001
Aminopterin/Methotrexate Embryofetopathy
Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... ORPHA:1908
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... OMIM:610205
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2184
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... ORPHA:2306
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Chronic sinusitis, Abdominal situs inversus OMIM:619607
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Atrioventricular canal defect, Aplasia/hypoplasia involving bon... ORPHA:40366
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia ORPHA:96129
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... OMIM:609942
Restrictive Dermopathy
Temporomandibular joint ankylosis, Atrial septal defect, Aplasia/Hypoplasia of the clavicles, Mic... ORPHA:1662
Prune Belly Syndrome
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Tetralogy of Fall... ORPHA:2970
Orofaciodigital Syndrome Xvii
Retrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Tetralogy of Fallot OMIM:617926
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Simpson-Golabi-Behmel Syndrome, Type 1
Short sternum, Hepatoblastoma, Cleft palate, Hepatomegaly, Ventricular septal defect, Mandibular ... OMIM:312870
Neu-Laxova Syndrome 1
Cleft palate, Micrognathia, Micromelia, Ventricular septal defect, Limb undergrowth, Pulmonary hy... OMIM:256520
German Syndrome
High palate, Abnormal cardiac septum morphology, Micrognathia, Tetralogy of Fallot, Dysphagia ORPHA:2077
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Cleft palate, Short ribs, Micrognathia, Short tibia, Esophageal diverticulum, Tetra... OMIM:617925
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Tetralogy o... ORPHA:163956
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Vater/Vacterl Association
Anal atresia, Hypoplasia of the radius, Tracheoesophageal fistula, Tetralogy of Fallot, Short thu... OMIM:192350
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Sho... OMIM:314400
Diets-Jongmans Syndrome
Ventricular septal defect, Duodenal atresia, Interrupted inferior vena cava with azygous continua... OMIM:618846
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
3C Syndrome
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... ORPHA:7
Frank-Ter Haar Syndrome
Double outlet right ventricle, High palate, Dental malocclusion, Atrial septal defect, Secundum a... OMIM:249420
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Exocrine pancreatic insufficiency, Micrognathia, Ventricular septal defect, Patent... ORPHA:452
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm OMIM:604308
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Double outlet right ventricle with doubly co... ORPHA:1596
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:2412
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... OMIM:619472
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, 11 pairs of ribs, Coarctation of aorta, Ve... OMIM:264480
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:619189
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Patent ductus arteriosus, Atrioventricular canal defect ORPHA:276413
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Micrognathia, Ventricular septal defect, Pulmonary hypoplasia, Overri... OMIM:617022
Cardiofacioneurodevelopmental Syndrome
Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, Micrognathia, Abdominal situs inv... OMIM:619123
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Carpenter Syndrome 2
High palate, Dental malocclusion, Narrow palate, Atrial septal defect, High, narrow palate, Retro... OMIM:614976
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Cleft palate, Micrognathia, Situs inversus totalis, Aglossia, Pulm... OMIM:202650
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Tetralogy of Fallot, Ventric... ORPHA:1335
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Atrial septal defect, Cleft palate, Aplasia/Hypoplasia of the patella,... OMIM:617063
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Muscular ventricular septal defect, Delayed eruption of teeth, Cholestasis, Ventricu... OMIM:619503
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Patent ductus arteriosus, Abnormal tricus... ORPHA:90308
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Short distal phalanx of finger, Arteriovenous malformation, ... ORPHA:974
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Kleefstra Syndrome 1
Gastroesophageal reflux, Persistence of primary teeth, Macroglossia, Malar flattening, Protruding... OMIM:610253
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve ORPHA:1724
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... OMIM:609008
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Holoprosencephaly 14
Ventricular septal defect, Cleft palate, Aortic valve atresia, Double outlet right ventricle OMIM:619895
Ivic Syndrome
Anal atresia, Short clavicles, Absent thumb, Short femur, Intestinal malrotation, Hypoplasia of t... OMIM:147750
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Tetralogy of Fallot ORPHA:2328
Congenital Tracheomalacia
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Recurrent up... ORPHA:95430
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Stroke, Atrial septal defect ORPHA:49827
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Aplasia/hypopla... ORPHA:3320
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Eruption failure, Micrognathia, Complete atrioventricular canal defect, Unilateral r... ORPHA:476126
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Aortic ro... ORPHA:284979
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Warsaw Breakage Syndrome
Ventricular septal defect, High palate, Tetralogy of Fallot OMIM:613398
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Ve... OMIM:617159
Lymphedema-Distichiasis Syndrome
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose ... OMIM:153400
Microphthalmia, Syndromic 2
Double outlet right ventricle, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, ... OMIM:300166
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... ORPHA:2059
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Congenital Tricuspid Stenosis
Tricuspid stenosis ORPHA:95459
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Hypoplasia of the ulna, Doubl... OMIM:214800
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... ORPHA:2396
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Retrognathia... OMIM:192430
Methimazole Embryofetopathy
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Recombinant 8 Syndrome
Atrial septal defect, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defect,... ORPHA:96167
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Malar flattening, Retrognathia, Micrognathia, Pyloric stenosis, Rectal p... OMIM:613177
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Pate... OMIM:612562
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Tarp Syndrome
High palate, Short sternum, Cleft palate, Glossoptosis, Hypoplasia of the radius, Micrognathia, T... OMIM:311900
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent foram... OMIM:157800
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Hepatoblastoma... ORPHA:84064
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:613870
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Hamamy Syndrome
High palate, Dental malocclusion, Atrial septal defect, Short 2nd finger, Micrognathia, Enamel hy... OMIM:611174
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Bifid tongue, Bifid uvula, Tetralogy of Fallot, Enamel ... ORPHA:2919
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:608406
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft palate, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... OMIM:600460
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Retrognathia, Micrognathia, Abnormality of dental eruption, Tetralogy of Fal... ORPHA:96092
Mckusick-Kaufman Syndrome
High palate, Ectopic anus, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft pala... ORPHA:2473
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventric... OMIM:618748
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Woods Syndrome
Ventricular septal defect OMIM:615236
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Mitral valve prola... OMIM:154700
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Micrognathia, Short middle... ORPHA:391641
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the esoph... OMIM:609192
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defect OMIM:618142
Orofaciodigital Syndrome V
High palate, Cleft palate, Bifid tongue, Bifid uvula, Tetralogy of Fallot, Lobulated tongue, Vent... OMIM:174300
Geleophysic Dysplasia 2
Tricuspid stenosis, Mitral valve prolapse, Mitral stenosis, Aortic valve stenosis OMIM:614185
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Ventricular septal defect, Patent ductus arteriosus ORPHA:261337
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Right ventricular hypertrophy, Left ventricular hypertrophy, Abnormal left ... ORPHA:466791
Acrocardiofacial Syndrome
Mitral stenosis, Anal atresia, Atrial septal defect, Cleft palate, Coarctation of aorta, Tetralog... ORPHA:2008
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Acrofacial Dysostosis 1, Nager Type
Short toe, Velopharyngeal insufficiency, Cleft palate, Absent thumb, Hypoplasia of the radius, Re... OMIM:154400
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... ORPHA:488618
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect ORPHA:290
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Peripheral arteriovenous fistula, Venous insufficiency ORPHA:2346
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... ORPHA:363705
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse ORPHA:1101
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Patent ductus arteriosus, Atrial septal defect OMIM:618371
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta OMIM:616145
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal heart morphology ORPHA:485405
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... ORPHA:96147
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy OMIM:607598
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect OMIM:263630
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... OMIM:615474
Filippi Syndrome
Ventricular septal defect OMIM:272440
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:300963
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:609029
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Whim Syndrome
Sinusitis, Recurrent upper respiratory tract infections, Tetralogy of Fallot, Abnormality of the ... ORPHA:51636
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Doors Syndrome
Double outlet right ventricle, High palate, Short distal phalanx of finger, Narrow palate, Gastro... ORPHA:79500
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:329224
Tyshchenko Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:615102
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Coarctati... OMIM:616564
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Nonc... OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus OMIM:617751
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Mitral valve prolapse, Dilated card... ORPHA:2556
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Gastritis, Recurrent bronchopulmonary infections, Cor pulmonal... OMIM:219721
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect ORPHA:75389
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Loeys-Dietz Syndrome 2
Cleft palate, Pulmonary artery aneurysm, Aortic root aneurysm, Spontaneous pneumothorax, Retrogna... OMIM:610168
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Mitral valve prolapse, Atrial septal defect OMIM:601776
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect OMIM:619909
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:619769
Transaldolase Deficiency
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:606003
Alagille Syndrome 1
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Exocrine pancreatic insuffi... OMIM:118450
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctat... OMIM:605275
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia ORPHA:2876
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis ORPHA:85202
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus OMIM:147770
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect OMIM:608572
Knobloch Syndrome 2
Micrognathia, Abnormal pulmonary interstitial morphology, Pyloric stenosis, Enamel hypoplasia, Pa... OMIM:618458
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale OMIM:618027
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse OMIM:619980
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Arterial dissection, Arteriovenous fistula, Mitral valve prolapse, Dila... ORPHA:287
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Atrial septal defect, Aortic root aneurysm OMIM:301039
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy OMIM:616651
Neurocardiofaciodigital Syndrome
High palate, Double inlet left ventricle, Atrial septal defect, Retrognathia, Tetralogy of Fallot... OMIM:619869
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Tetralogy of Fallot, Hypoplasia of the ulna, Phocomelia, Absent gallbla... ORPHA:3186
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitral valve prolapse, Pa... OMIM:121050
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618950
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Hydrolethalus Syndrome 1
Cleft palate, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb undergrowth,... OMIM:236680
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... OMIM:612582
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Supernumerary tooth, Hepatomegaly, Splenomegaly, Micrognathia, Elevated ... OMIM:619525
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Persistent left superior vena cava, Hypertrophic cardiomyopathy, Peric... OMIM:618775
3P25.3 Microdeletion Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Cor... ORPHA:435638
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:618870
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy OMIM:616730
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect ORPHA:2519
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Gabriele-De Vries Syndrome
Patent foramen ovale, Ebstein anomaly of the tricuspid valve ORPHA:506358
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Kagami-Ogata Syndrome
Ventricular septal defect, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:608149
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect ORPHA:3378
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Cleft... OMIM:100300
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... ORPHA:96170
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Atrioventricular canal defect, Micromelia, Ventricular septal ... ORPHA:508488
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:612938
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614576
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:615879
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular septal defect, Ventricular hypertrophy, Intracranial hemorrhage ORPHA:369929
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Geleophysic Dysplasia 1
Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis OMIM:231050
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect OMIM:611134
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:609053
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Atrial septal defect OMIM:617452
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:610733
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atr... OMIM:613001
Phace Syndrome
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Coarctation of aorta, Tet... ORPHA:42775
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:270450
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:617061
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abn... ORPHA:457279
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:220500
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect ORPHA:457193
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Tetralogy of Fallot, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Apl... ORPHA:306542
Codas Syndrome
Ventricular septal defect ORPHA:1458
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:77298
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Orotic Aciduria
Ventricular septal defect, Atrial septal defect OMIM:258900
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:505237
Seckel Syndrome 9
Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia OMIM:616777
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:617602
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:105650
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy OMIM:618348
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve pr... OMIM:175050
Ogden Syndrome
Ventricular septal defect, Pulmonary artery stenosis ORPHA:276432
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Pulmonic stenosis, Left superior vena cava draining to coronary sinus, Vent... OMIM:602782
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:244300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, At... OMIM:158170
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect, Aortic root aneurysm OMIM:145420
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis ORPHA:100077
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Secundum atrial sept... OMIM:142900
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Aortic root aneurysm ORPHA:96201
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Atrial septal defect, Tetralogy of Fallot, Ventricular septa... ORPHA:1507
Gm1 Gangliosidosis
Cherry red spot of the macula, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopath... ORPHA:354
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Abnormal vena cava morphology ORPHA:166035
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Pulmonic stenosis, Ventricular septal... OMIM:143095
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:254346
Kleefstra Syndrome
Bicuspid aortic valve, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pulm... ORPHA:261494
Trisomy 1Q
Ventricular septal defect, Patent ductus arteriosus ORPHA:261344
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... ORPHA:99776
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Ascending tubular aorta aneurysm, Atrial septal defect OMIM:309520
Sotos Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Muscular ventricular s... OMIM:117550
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pe... ORPHA:26793
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Patent ductus arteriosus OMIM:106260
Ellis Van Creveld Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... ORPHA:289
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Atrial septal defect OMIM:617360
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Coarctation of aorta OMIM:614114
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Dilation of Virchow-R... OMIM:300998
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pleural lymphangiectasia, Ventricular septal defect, Pericardial effusion, ... OMIM:235510
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Thyroid lymph... OMIM:235255
Chops Syndrome
Ventricular septal defect, Anomalous pulmonary venous return, Patent ductus arteriosus, Patent fo... OMIM:616368
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Atrial septal defect OMIM:610536
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Peripheral arterial stenos... ORPHA:580
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus OMIM:300472
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:610978
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Alagille Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Atrial septal defect ORPHA:52
Chromosome 15Q25 Deletion Syndrome