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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
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... 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
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Right aortic arch, Transposition of the gr... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Atrial... ORPHA:1913
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Isomer... OMIM:314390
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Abnormality of the pancreas, Cleft palate, Abnormal aort... ORPHA:1926
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Pierre Robin Syndrome
Glossoptosis, Cor pulmonale, Cleft palate, Micrognathia OMIM:261800
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... ORPHA:1727
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle, Cleft palat... OMIM:220210
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Micrognathia, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial ... ORPHA:3304
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Anterior open-bite malocclusion, Perimembranous ventricular septal d... OMIM:617877
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:179613
8P23.1 Microdeletion Syndrome
Micrognathia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, A... ORPHA:251071
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Malar fla... ORPHA:1919
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... OMIM:600001
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... OMIM:618316
Carpenter Syndrome 1
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... OMIM:201000
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Ververi-Brady Syndrome
High palate, Transposition of the great arteries OMIM:617982
Thoracoabdominal Syndrome
Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries... OMIM:313850
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... ORPHA:1780
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth OMIM:613630
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Cat-Eye Syndrome (Type I)
Micrognathia, Anal atresia, Abnormal heart morphology DECIPHER:42
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominence of the premaxilla, Patent ductus arteriosus, Atrial sep... OMIM:614886
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal heart morphology, Coarctati... ORPHA:2209
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect, Micrognathia OMIM:243440
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Cleft palate, Abnormal aortic morphology, Tetralogy of F... ORPHA:1166
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte... OMIM:612561
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p... OMIM:615524
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Renpenning Syndrome
Mandibular prognathia, High, narrow palate, Cleft palate, Heterotaxy, Malar flattening, Anal atresia ORPHA:3242
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Short middle phalanx of the 5th finger, Protrud... OMIM:190685
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot ORPHA:276422
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Megarectum, Pulmonic sten... OMIM:301056
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... ORPHA:2326
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Abnormality of the ... ORPHA:1667
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Micrognathia, High, narrow palate, Abnormal lung lobation, Cleft palat... ORPHA:2516
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... OMIM:616652
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Tetralogy of Fallot, Cleft pal... ORPHA:3474
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... OMIM:612946
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... OMIM:217085
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus OMIM:618624
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia ORPHA:1381
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... OMIM:619343
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cleft hard palate, C... OMIM:301043
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Micrognath... OMIM:115470
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartat... OMIM:280000
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Atrioventricular canal defect,... OMIM:619142
Autosomal Recessive Amelia
Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Amelia involvi... ORPHA:1027
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Abdominal situs a... OMIM:617092
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial septal defect... OMIM:241310
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... ORPHA:2001
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... ORPHA:1908
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... OMIM:616276
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Giant Cell Arteritis
Glossitis, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Gastroint... ORPHA:397
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Chronic sinusitis, Dextrocardia, Abdominal situs inversus OMIM:619607
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Cleft pa... OMIM:618021
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Micrognathia, Patent ductus arter... ORPHA:1662
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Vater/Vacterl Association
Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypoplasia of th... OMIM:192350
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, High, narrow palate, Tetralogy of Fallot, Retrognathia OMIM:617926
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... ORPHA:2970
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Abnormal lung lobation, Short palm, Hepatoblastoma, Atrial septal defect, ... OMIM:312870
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Recu... ORPHA:2331
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
German Syndrome
Micrognathia, Abnormal cardiac septum morphology, High palate, Dysphagia, Tetralogy of Fallot ORPHA:2077
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Hamartoma of tongue, Micrognathia, Esophageal diverticulum, Comp... OMIM:617925
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Micrognathia, Double outlet right ventricle with doubly co... ORPHA:1596
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Carious teeth, Patent ductus arteriosus, High, narrow palat... OMIM:614976
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... OMIM:601005
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... ORPHA:163956
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Muscular ventricular septal defect, P... OMIM:612474
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorption, Patent ductus arte... ORPHA:452
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Frank-Ter Haar Syndrome
Ventricular septal defect, Micrognathia, Secundum atrial septal defect, Dental malocclusion, Mitr... OMIM:249420
Microphthalmia, Syndromic 9
Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Patent ductus arteriosus,... OMIM:601186
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Narrow palate, Cleft palate, Pulmonic stenosis, Atrial septal defect, D... OMIM:618223
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... OMIM:618846
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... ORPHA:7
Neu-Laxova Syndrome 1
Ventricular septal defect, Micromelia, Micrognathia, Patent ductus arteriosus, Cleft palate, Tran... OMIM:256520
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Micrognathia, Ascending aorta hypoplasia, High palate, Hepatic steatosis, ... OMIM:619503
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect OMIM:249270
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Agnathia-Otocephaly Complex
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulm... OMIM:202650
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa... OMIM:619472
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect... OMIM:264480
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cleft palate, Abdominal situs inversus, Pulmon... OMIM:619123
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Apl... ORPHA:1335
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Persistence of primary teet... OMIM:610253
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... ORPHA:90308
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... ORPHA:974
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate OMIM:619895
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Laubry-Pezzi Syndrome
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... ORPHA:99094
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... ORPHA:3320
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Intestinal malrotation, Absent thumb, Short thumb, Patent du... OMIM:147750
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... ORPHA:1329
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect, Partial absence ... ORPHA:476126
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... ORPHA:284979
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Velocardiofacial Syndrome
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Retrognathi... OMIM:192430
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Micrognathia, Abnormal aortic arch morphology, Cle... ORPHA:2059
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... OMIM:617159
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... OMIM:300166
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ar... OMIM:214800
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Congenital Tricuspid Stenosis
Tricuspid stenosis, Bacterial endocarditis ORPHA:95459
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... OMIM:157800
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus arteriosus, ... OMIM:612562
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Cleft palate, Varicose veins, ... OMIM:153400
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventri... OMIM:617063
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, ... ORPHA:84064
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... OMIM:615355
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Hamamy Syndrome
Micrognathia, Complete atrioventricular canal defect, Dental malocclusion, High palate, Atrial se... OMIM:611174
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Supernumerary tooth, Bifid tongue,... ORPHA:2919
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... ORPHA:2473
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... OMIM:600460
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Arterial tortuos... OMIM:609192
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... OMIM:154700
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... ORPHA:466791
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... ORPHA:1199
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Woods Syndrome
Ventricular septal defect OMIM:615236
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
8Q24.3 Microdeletion Syndrome
Micromelia, Abnormal lung lobation, Gastroesophageal reflux, Atrioventricular canal defect, Dyspl... ORPHA:508488
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septu... ORPHA:96147
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse ORPHA:1101
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas... ORPHA:51636
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... OMIM:618494
Filippi Syndrome
Ventricular septal defect OMIM:272440
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Turnpenny-Fry Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... OMIM:618371
Doors Syndrome
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Cleft palate, Narrow palate... ORPHA:79500
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:615668
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... ORPHA:2556
Leopard Syndrome 1
Mandibular prognathia, Missing ribs, Complete atrioventricular canal defect, Cleft palate, Mitral... OMIM:151100
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:617751
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Noonan Syndrome 10
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... OMIM:616564
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:601776
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Alagille Syndrome 1
Elevated hepatic transaminase, Hypoplasia of the ulna, Ventricular septal defect, Hepatocellular ... OMIM:118450
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... ORPHA:287
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:606003
Knobloch Syndrome 2
Recurrent respiratory infections, Micrognathia, Pyloric stenosis, Patent ductus arteriosus, Abnor... OMIM:618458
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi... ORPHA:3186
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, High palate, Atrial septal d... OMIM:619869
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... OMIM:612582
Emanuel Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atria... OMIM:609029
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:618870
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect... OMIM:236680
Gabriele-De Vries Syndrome
Ebstein anomaly of the tricuspid valve, Patent foramen ovale ORPHA:506358
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Kagami-Ogata Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:608149
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypopl... OMIM:100300
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Emanuel Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atria... ORPHA:96170
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:615879
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect OMIM:612938
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... OMIM:601808
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter... OMIM:300963
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Codas Syndrome
Ventricular septal defect ORPHA:1458
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect OMIM:616777
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... ORPHA:1507
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta OMIM:105650
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... OMIM:602782
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... OMIM:143095
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Kapur-Toriello Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:244300
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:254346
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis ORPHA:100078
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
Sotos Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Muscular ventricular s... OMIM:117550
Gm1 Gangliosidosis
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cardiomyopathy, C... ORPHA:354
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Trisomy 1Q
Patent ductus arteriosus, Ventricular septal defect ORPHA:261344
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm ORPHA:96201
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Patent ductus arteriosu... ORPHA:99776
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... OMIM:300998
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:614114
Lateral Meningocele Syndrome
Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Aortic aneurysm OMIM:130720
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Joubert Syndrome 14
Intracranial hemorrhage, Ventricular septal defect OMIM:614424
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:580
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph... OMIM:235255
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis ORPHA:52
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... ORPHA:1708
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616449
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis OMIM:277600
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Cardiomegaly OMIM:614921
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217085
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217093
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect OMIM:612530
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79345
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis ORPHA:100079
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Loeys-Dietz Syndrome 5
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... OMIM:615582
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
Opitz Gbbb Syndrome
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphol... ORPHA:2745
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... ORPHA:567
Zellweger Syndrome
Ventricular septal defect ORPHA:912
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim... ORPHA:508498
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... ORPHA:209905
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta ORPHA:1692
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Donnai-Barrow Syndrome
Ventricular septal defect OMIM:222448
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery at... OMIM:616894
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia ORPHA:1655
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm ORPHA:261330
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Left superior vena cava draining to coronary sinus ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Mgat2-Cdg
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:79329
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Coarctation of aorta OMIM:618454
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect OMIM:243150
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect, Vascular dilatation OMIM:607323
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... OMIM:608328
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect OMIM:619229
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Ventricular septal defect OMIM:214100
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta ORPHA:268249
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Alg9-Cdg
Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil... ORPHA:79328
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... ORPHA:163979
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:1465
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... ORPHA:96121
Renal Agenesis
Ventricular septal defect ORPHA:411709
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Focal Dermal Hypoplasia
Patent ductus arteriosus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:2092
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:269860
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:607721
Holoprosencephaly
Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aor... ORPHA:2162
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:274000
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:257920
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol... ORPHA:500095
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:618268
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Opitz Gbbb Syndrome
Ventricular septal defect OMIM:300000
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Pallister-Hall Syndrome
Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the aorta OMIM:146510
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Ventricular septal defect OMIM:614866
Marshall-Smith Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve OMIM:602535
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Vascular ring, Coarcta... OMIM:180849
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis ORPHA:464311
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Oculodentodigital Dysplasia
Ventricular septal defect ORPHA:2710
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:453504
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect OMIM:614653
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:352665
Trichothiodystrophy
Cardiomyopathy, Ventricular septal defect ORPHA:33364
Goldberg-Shprintzen Syndrome
Ventricular septal defect OMIM:609460
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363958
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300373
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis ORPHA:955
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis ORPHA:464306
Renpenning Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis OMIM:309500
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... ORPHA:97214
Hardikar Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... OMIM:301068
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta OMIM:616145
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... ORPHA:353281
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... ORPHA:363700
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect OMIM:147791
Fanconi Anemia, Complementation Group C
Ventricular septal defect OMIM:227645
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta ORPHA:2308
Histiocytoid Cardiomyopathy
Stroke-like episode, Ventricular septal defect, Cardiomegaly ORPHA:137675
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect, Patent ductus art... ORPHA:3047
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect OMIM:263520
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:616975
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... ORPHA:124
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... OMIM:218040
Williams Syndrome
Abnormal endocardium morphology, Aortic arch aneurysm, Overriding aorta, Bicuspid aortic valve, V... ORPHA:904
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... OMIM:616268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... ORPHA:444077
Keutel Syndrome
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul... OMIM:245150
Cornelia De Lange Syndrome 1
Ventricular septal defect OMIM:122470
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect, Patent ductus art... ORPHA:818
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve... OMIM:619534
Cerebrocostomandibular Syndrome
Ventricular septal defect ORPHA:1393
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve OMIM:271640
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Degcags Syndrome
Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic... OMIM:619488
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h... ORPHA:268261
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect OMIM:619418
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... ORPHA:353277
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa... OMIM:210710
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Cerebrocostomandibular Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:117650
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Ventricula... ORPHA:459070
Zttk Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617140
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Dilatation of the cerebral artery, Bicuspid aortic valve, Aortic aneurysm OMIM:619475
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro... OMIM:194050
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def... ORPHA:3472
Limb Body Wall Complex
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology ORPHA:2369
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:270400
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Fryns Syndrome
Atrial septal defect, Ventricular septal defect OMIM:229850
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Simpson-Golabi-Behmel Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:373
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,... OMIM:188400
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... OMIM:235730
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep... ORPHA:96334
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Patent ductus arteriosus, Dilat... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Coffin-Siris Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:135900
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... ORPHA:672
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect OMIM:194190
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619522
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Ulnar-Mammary Syndrome
Ventricular septal defect OMIM:181450
Johanson-Blizzard Syndrome
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ... OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect OMIM:620330
Sotos Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:821
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect OMIM:606170
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet... OMIM:164210
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:268300
Yunis-Varon Syndrome
Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:216340
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Aortic valve stenosis,... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mmp21

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mmp21.

No publications found that use IMPC mice or data for Mmp21.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mmp21tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mmp21tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mmp21tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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