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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:
b2b873Clo,  b2b2458Clo

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
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Cleft palate, Microg... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Micrognathia, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Mi... ORPHA:1913
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Absent radius, Isomerism, Anal atresia, Atrioventricular canal defect, Tracheoesop... OMIM:314390
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pancreas, Cleft palate,... ORPHA:1926
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Abnormality of the pharynx, Hypoplastic left ... ORPHA:1727
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate OMIM:261800
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Short 5th metacarpal, Pulmonic stenosis, Anterior open-bite malocclusion, Perimembran... OMIM:617877
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Anteverted nares, Ventricular septal defect, Patent ductus arteriosus, Pulm... OMIM:179613
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Bulbous nose, Patent foramen ovale, Transposition of the great arteries, Depressed ... OMIM:616789
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Polyspleni... OMIM:613807
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Abnormal tracheobronchial morphology, Micrognathia, Trismus, Abnormal heart morphology OMIM:218450
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognathia, Tetralogy... ORPHA:1919
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, High palate, Transposition of the great arteries, Promi... OMIM:617982
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Arteria lusoria, Mitral stenosis, Tricuspid valve prolapse, Patent foramen ova... OMIM:212093
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tetralogy of Fallot,... ORPHA:1780
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Polysplenia, Patent ductus arteriosus, Persisten... OMIM:201000
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Aglossia, Patent ductus arteriosus, Micrognathia, Malar flattening, Hypopla... OMIM:241310
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Situs inversus totalis, Abnormal heart morphology, Disproportionate sho... ORPHA:1505
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Esophageal atresia, Wide nasal bridge, Doub... ORPHA:2209
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Transposition of th... OMIM:313850
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Wi... OMIM:614886
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... ORPHA:2255
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Cat-Eye Syndrome (Type I)
Micrognathia, Anal atresia, Abnormal heart morphology DECIPHER:42
Fetal Minoxidil Syndrome
Micrognathia, Depressed nasal bridge, Ventricular septal defect ORPHA:1918
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, Patent ductus... ORPHA:1880
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Micrognathia, Conotruncal defect OMIM:243440
Mental Retardation, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Bowen Syndrome Of Multiple Malformations
Micrognathia, Abnormal heart morphology OMIM:211200
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Abnormality of the pulmonary... ORPHA:1166
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... OMIM:615524
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Facial Dysmorphism With Multiple Malformations
Bulbous nose, Short nose, Ventricular septal defect, Wide nasal bridge, Rectovaginal fistula, Ana... OMIM:227255
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Pat... ORPHA:210122
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Gastroesophageal ... OMIM:600123
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Renpenning Syndrome
Mandibular prognathia, Anal atresia, Heterotaxy, Cleft palate, High, narrow palate, Malar flatten... ORPHA:3242
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Meckel diverticulum, Atria... ORPHA:2847
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Tetralogy of Fallot, Hypoplasia of the odontoid process, Micromelia ORPHA:93315
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot ORPHA:276422
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Gastroesophageal reflux, Patent ductus arteriosus, Aplasia of the nose... OMIM:301043
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Short sternum, Premature sternal synostosis, Abnormal heart morphology OMIM:184800
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Micrognathia OMIM:228940
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Chime Syndrome
Pulmonary valve atresia, Ventricular septal defect, Short foot, Aplasia/Hypoplasia of the phalang... ORPHA:3474
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... OMIM:217085
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Gastroesophageal reflux ORPHA:250994
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... ORPHA:1666
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Microretrognathia, Glossop... OMIM:618021
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Double... OMIM:301056
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia ORPHA:1381
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Wide nasal bridge, Cleft palate,... OMIM:280000
Wolcott-Rallison Syndrome
Atrial septal defect, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Acute hep... ORPHA:1667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Wide... ORPHA:2184
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Microglossia, Asplenia, High palate, Micrognathia OMIM:612776
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Bronchitis, Cardiomegaly, Patent ... OMIM:601005
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect OMIM:300887
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Patent ductus arteriosus, Pulmonic stenosis, Cleft palate, D... OMIM:618223
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic nasal septum, Median cleft pal... ORPHA:40366
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Autosomal Recessive Amelia
Acromelia of the lower limbs, Amelia involving the upper limbs, Amelia, Aplasia/Hypoplasia of the... ORPHA:1027
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosis, Aor... OMIM:615415
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect, Limb undergrowth, Hypoplas... OMIM:619142
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Cholestasis, Pulmonic stenosis, Chole... OMIM:610205
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Narrow naris, Narrow palate, Patent ductus arterios... OMIM:614976
German Syndrome
Dysphagia, Wide nasal bridge, Tetralogy of Fallot, High palate, Abnormal cardiac septum morpholog... ORPHA:2077
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Micrognathia, Prominent nose OMIM:221950
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Anteriorly placed anus, Ventricular septal defect OMIM:618624
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Aglossia, Laryngeal hypoplasia, Tracheomalacia, Hypop... OMIM:202650
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... ORPHA:2306
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Wide nasal b... ORPHA:1908
Cat Eye Syndrome
Abnormal heart morphology, Micrognathia, Biliary atresia, Intestinal malrotation, Absent radius, ... OMIM:115470
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventr... ORPHA:371428
Vater/Vacterl Association
Hypoplasia of the radius, Abnormal nasopharynx morphology, Ventricular septal defect, Patent duct... OMIM:192350
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Intestinal malrotation, Bilateral cleft lip... ORPHA:2001
Pallister-Hall-Like Syndrome
Short nose, Abnormal heart morphology, Short ribs, Pulmonary hypoplasia, Depressed nasal bridge, ... OMIM:241800
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Bulbous nose, Wide nasal bridge, Cleft palate, Micrognathia, Malar flattening ORPHA:93946
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Restrictive Dermopathy
Atrial septal defect, Temporomandibular joint ankylosis, Micrognathia, Aplasia/Hypoplasia of the ... ORPHA:1662
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, High, narrow palate, Tetralogy of Fallot, Retrognathia, P... OMIM:617926
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Absent gallbladder, Laryngeal hypoplasia, Complete atrioventricular canal de... OMIM:617925
Faciocardiorenal Syndrome
Endocardial fibroelastosis, Tricuspid valve prolapse ORPHA:1973
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Giant Cell Arteritis
Recurrent pharyngitis, Glossitis, Pericarditis, Gastrointestinal infarctions, Abnormal pleura mor... ORPHA:397
Simpson-Golabi-Behmel Syndrome, Type 1
Patent ductus arteriosus, Intestinal malrotation, Short distal phalanx of finger, Transposition o... OMIM:312870
Distal Monosomy 19P13.3
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Aortic dissection, Micrognathia, Prominent nasal bridge... OMIM:130090
Frank-Ter Haar Syndrome
Atrial septal defect, Ventricular septal defect, High palate, Double outlet right ventricle, Broa... OMIM:249420
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Noonan Syndrome 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tri... OMIM:609942
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Wide nasal bridge, Median cleft palate, Broad nasal tip, Bifid nose,... OMIM:136760
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Limb undergrowth, Pulmonary hypoplasia, Clef... OMIM:256520
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot OMIM:250620
3C Syndrome
Intestinal malrotation, High, narrow palate, Micrognathia, Depressed nasal bridge, Abnormal tricu... ORPHA:7
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
X-Linked Intellectual Disability, Nascimento Type
Underdeveloped nasal alae, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmon... ORPHA:163956
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Pulmonary artery stenosis, Patent ... OMIM:265380
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Prune Belly Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation... ORPHA:2970
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, High palate, Pulmonic stenosis, Aortic valve stenosis, Mitral va... ORPHA:228410
Down Syndrome
Macroglossia, Complete atrioventricular canal defect, Aganglionic megacolon, Duodenal stenosis, P... OMIM:190685
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Progeroid Facial Appearance With Hand Anomalies
Prominent superficial veins, Tetralogy of Fallot, Prominent nose OMIM:602249
Distal Monosomy 15Q
Broad nasal tip, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Diets-Jongmans Syndrome
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Duodenal atr... OMIM:618846
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Kawasaki Disease
Recurrent pharyngitis, Glossitis, Pericarditis, Abnormal heart valve morphology, Cholecystitis, A... ORPHA:2331
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Ventricular septal defect, Micrognathia, Patent ductus arterio... ORPHA:452
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:2412
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Short chordae tendineae of the mitral valve, Short chordae tendineae of th... OMIM:314400
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Tricuspid valve prolapse ORPHA:276413
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Cleft palate, A... OMIM:619123
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Limb undergrowth, Lary... OMIM:608149
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, P... ORPHA:401935
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Anal stenosis, Complete atrioventricular canal d... OMIM:617063
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Kapur-Toriello Syndrome
Bulbous nose, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Tetral... ORPHA:2328
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Polysplenia, Abnormal pericardium morphology, Ap... ORPHA:1335
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Ventricular septal defect OMIM:613458
Kleefstra Syndrome 1
Macroglossia, Anteverted nares, Mandibular prognathia, Natal tooth, Gastroesophageal reflux, Pers... OMIM:610253
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Gastroesophageal reflux, Bronchomalacia, Pyloric stenosis, Vascular dilatation, Trache... OMIM:613177
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
Lethal Congenital Contracture Syndrome 10
Narrow palate, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, H... OMIM:617022
Klippel-Trénaunay Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Peripheral a... ORPHA:90308
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Mosaic Trisomy 20
Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect ORPHA:1724
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Fetal Encasement Syndrome
Mandibular aplasia, Upper limb undergrowth, Bilateral trilobed lungs, Protruding tongue, Lower li... OMIM:613630
Adams-Oliver Syndrome
Absent hand, Cirrhosis, Gastrointestinal hemorrhage, Esophageal varix, Short distal phalanx of fi... ORPHA:974
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Tarp Syndrome
Hypoplasia of the radius, Tongue nodules, Short sternum, Wide nasal bridge, Glossoptosis, Cleft p... OMIM:311900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aplasia of the 1st metacarpal, Short nose, Complete atrioventricular canal defect, Partial absenc... ORPHA:476126
Johnson Neuroectodermal Syndrome
Carious teeth, Bulbous nose, Choanal atresia, Cleft palate, Tetralogy of Fallot ORPHA:2316
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Charge Syndrome
Patent ductus arteriosus, Choanal atresia, Double outlet right ventricle, Absent radius, Short th... OMIM:214800
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Leopard Syndrome 3
Depressed nasal bridge, Tetralogy of Fallot, Abnormal aortic valve morphology, Abnormal mitral va... OMIM:613707
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/Hypoplasia of the patella, Cleft palate, Absent radius, Tetralogy of Fal... ORPHA:3320
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Gastroesophageal reflux, Intestinal ... ORPHA:2059
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Ventricular... OMIM:192430
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Ivic Syndrome
Hypoplasia of the radius, Short femur, Upper limb undergrowth, Carpal bone hypoplasia, Short 1st ... OMIM:147750
Feingold Syndrome
Patent ductus arteriosus, Esophageal atresia, Duodenal atresia, Abnormality of the spleen, Microg... ORPHA:1305
Filippi Syndrome
Ventricular septal defect OMIM:272440
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Tetralogy of Fallot, Varicose ... OMIM:153400
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Pulmonar... ORPHA:96167
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Aortic root aneurysm, Mitral val... ORPHA:284979
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Persistent left superior vena ca... OMIM:609008
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Patent ductus arterio... OMIM:300166
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Short clavicles, Coarctation of aorta, Short fem... OMIM:617159
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Diamond-Blackfan Anemia 7
Esophagitis, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, ... OMIM:612562
Congenital Tricuspid Stenosis
Tricuspid stenosis ORPHA:95459
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pneumothorax, ... ORPHA:2257
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Wide nasal bridge, Anteriorly placed anus,... ORPHA:1352
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, High, narrow palate, Wide nasal... ORPHA:96092
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid valve prola... ORPHA:2396
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Syndromic Diarrhea
Cirrhosis, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Villous at... ORPHA:84064
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:615355
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Choanal atresia, ... ORPHA:1199
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Mcdonough Syndrome
Pulmonic stenosis, Aortic valve stenosis, Atrial septal defect, Ventricular septal defect OMIM:248950
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Acrofacial Dysostosis 1, Nager Type
Prominent nasal bridge, Hypoplasia of the radius, Ventricular septal defect, Laryngeal hypoplasia... OMIM:154400
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:600987
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Kleefstra Syndrome
Delayed eruption of teeth, Macroglossia, Short nose, Anteverted nares, Ventricular septal defect,... ORPHA:261494
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:608406
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... OMIM:600460
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aganglionic megacolon,... ORPHA:2473
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Wide nasal bridge, Cleft pal... ORPHA:2008
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, High, narrow palate, Aganglionic megacolon, Bifid tongue, Supernumerary tooth,... ORPHA:2919
Marfan Syndrome
Aortic dissection, Bicuspid aortic valve, Mitral annular calcification, Aortic root aneurysm, Tri... OMIM:154700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Rectoperineal fistula, Hypoplastic left heart, Coarctation of aorta, P... OMIM:618748
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Short nose, Protruding tongue, Aortic valve stenosis, Tetralogy of Fallot, Coarctat... ORPHA:96147
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618142
Feingold Syndrome Type 1
Tricuspid atresia, Gastrointestinal atresia, Interrupted aortic arch, Abnormal heart morphology, ... ORPHA:391641
Geleophysic Dysplasia 2
Mitral valve prolapse, Aortic valve stenosis, Tricuspid stenosis, Mitral stenosis OMIM:614185
Diamond-Blackfan Anemia 10
Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Cleft palate, Micrognathia,... OMIM:613309
Woods Syndrome
Ventricular septal defect OMIM:615236
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Tricuspid valve prolapse, Ventricular septal defect ORPHA:261337
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Angioosteohypertrophic Syndrome
Venous insufficiency, Peripheral arteriovenous fistula, Tricuspid valve prolapse ORPHA:2346
Doors Syndrome
Narrow palate, Bulbous nose, Anteverted nares, Aplasia/Hypoplasia of the phalanges of the 2nd toe... ORPHA:79500
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse ORPHA:1101
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Coarctation of aorta, Ventricular septal defect OMIM:616145
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Whim Syndrome
Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tra... ORPHA:51636
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Cerebral berry aneurysm OMIM:173900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Turnpenny-Fry Syndrome
Mitral valve prolapse, Atrial septal defect, Patent ductus arteriosus, Tricuspid valve prolapse OMIM:618371
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:614261
Trichohepatoenteric Syndrome 1
Cirrhosis, Ventricular septal defect, Villous atrophy, Cholestasis, Hepatic fibrosis, Pulmonic st... OMIM:222470
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Patent foramen ovale, Left ventricular hypertrophy, Ventricular septal... OMIM:615474
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Fibular aplasia, Atrial septal defect, Anteverted nares, Ventricular septal ... OMIM:274000
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Patent ductus arteriosus, Cleft palate, Retrognathia, Micrognathia, Hypoplasia o... OMIM:616462
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... OMIM:609029
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Cor pulmonale, Emphysema, Biliary cirrhosis, Meconium ileus, B... OMIM:219721
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300963
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Trisomy 8P
Abnormal lung lobation, Short fifth metatarsal, Malrotation of small bowel, Short nose, Short fou... ORPHA:264450
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:500159
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Hydrolethalus Syndrome 1
Upper limb undergrowth, Accessory spleen, Ventricular septal defect, Laryngeal hypoplasia, Comple... OMIM:236680
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Patent ductus arte... OMIM:609192
Colonic Atresia
Abnormality of mesentery morphology, Colonic atresia, Abdominal situs inversus, Peptic ulcer, Duo... ORPHA:1198
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Aplasia of the nose, Aplasia/Hypoplasia of the ... ORPHA:3186
Microform Holoprosencephaly
Short nose, Choanal atresia, Duodenal atresia, Cleft palate, Tetralogy of Fallot, Anteverted nare... ORPHA:280200
Fibromuscular Dysplasia, Multifocal
Vertebral artery tortuosity, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hiatus ... OMIM:619329
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum ... ORPHA:2556
Alagille Syndrome 1
Cirrhosis, Atrial septal defect, Elevated hepatic transaminase, Reduced number of intrahepatic bi... OMIM:118450
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Melnick-Needles Syndrome
Mitral valve prolapse, Tricuspid valve prolapse OMIM:309350
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the... ORPHA:466791
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... OMIM:616564
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Tarp Syndrome
Atrial septal defect, Abnormal duodenum morphology, Tongue nodules, Short sternum, Wide nasal bri... ORPHA:2886
Hemifacial Microsomia
Vertebral hypoplasia, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Pulmonar... OMIM:164210
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:613457
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:606003
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Teebi Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect OMIM:145420
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect OMIM:219730
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:329224
Phaver Syndrome
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic aortic arch, Ventricular septal defect ORPHA:2876
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Underdeveloped nasal alae, Aplasia/Hypoplasia of the frontal sinu... ORPHA:306542
Johnson Neuroectodermal Syndrome
Right aortic arch, Patent ductus arteriosus, Ventricular septal defect OMIM:147770
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology ORPHA:485405
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect, Patent ductus a... OMIM:605275
Coffin-Siris Syndrome
Delayed eruption of teeth, Atrial septal defect, Short nose, Anteverted nares, Ventricular septal... ORPHA:1465
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Classical Ehlers-Danlos Syndrome
Arteriovenous fistula, Arterial dissection, Dilatation of the cerebral artery, Tricuspid valve pr... ORPHA:287
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Chromosome 1P36 Deletion Syndrome
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Ventricular septal de... OMIM:607872
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:208085
Loeys-Dietz Syndrome 2
Generalized arterial tortuosity, Patent ductus arteriosus, Dilatation of mesenteric artery, Aorti... OMIM:610168
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:301030
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Inlet ventricular septal defect, Primum atrial septal defect OMIM:600309
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:121050
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Short hallux, Short femur, Truncus arteriosus, Mesiodens, Complete atri... ORPHA:508488
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery athero... ORPHA:435638
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Persistent left superior vena cava, Hypertrophic... OMIM:618775
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Yunis-Varon Syndrome
Aplasia/Hypoplasia of the hallux, Ventricular septal defect, Micrognathia, Short finger, Pyloric ... OMIM:216340
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Renpenning Syndrome 1
Atrial septal defect, Situs inversus totalis, Bulbous nose, Ventricular septal defect, Mandibular... OMIM:309500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:612938
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... ORPHA:96170
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of ao... OMIM:612726
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Costello Syndrome
Mitral valve prolapse, Ventricular septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Sotos Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:117550
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:618950
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... OMIM:601808
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Abnormal tricuspid valve morp... ORPHA:192
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618870
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Gastrointestinal Defects And Immunodeficiency Syndrome
Ventricular septal defect OMIM:243150
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:609053
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Patent ductus arteriosus, Wide nasal... ORPHA:1519
Geleophysic Dysplasia 1
Tricuspid stenosis, Aortic valve stenosis, Mitral stenosis OMIM:231050
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Cleft ... OMIM:100300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Ventricular septal defect, Abnormal heart morphology ORPHA:369891
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:270450
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Noonan Syndrome 4
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:610733
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Codas Syndrome
Ventricular septal defect ORPHA:1458
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:612582
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect OMIM:617164
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:457279
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect OMIM:616777
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:105650
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Yunis-Varon Syndrome
Cardiomegaly, High, narrow palate, Micrognathia, Renal artery stenosis, Cardiomyopathy, Short mid... ORPHA:3472
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:617602
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Gabriele-De Vries Syndrome
Patent foramen ovale, Ebstein anomaly of the tricuspid valve ORPHA:506358
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Lef... OMIM:602782
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Kapur-Toriello Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:244300
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Holt-Oram Syndrome
Secundum atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular sept... OMIM:142900
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Tri... OMIM:143095
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Ileal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis ORPHA:100077
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Mosaic Trisomy 9
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Endocardial fib... ORPHA:99776
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
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Abnormal cardiac septum morphology, Atrial septal defect, Ventricular septal defect OMIM:610978
Trisomy 1Q
Patent ductus arteriosus, Ventricular septal defect ORPHA:261344
X Small Rings
Aortic root aneurysm, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Floating-Harbor Syndrome
Carious teeth, Atrial septal defect, Broad nasal tip, Gastroesophageal reflux, Persistence of pri... ORPHA:2044
Gm1 Gangliosidosis
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Cherry red spot o... ORPHA:354
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Ventricular se... OMIM:235255
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... ORPHA:289
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:158170
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Thyroid lymphangiectasia, ... OMIM:235510
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:254346
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Pa... ORPHA:26793
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal heart morphology, Abn... ORPHA:580
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect ORPHA:96097
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hepatic arteriovenous malformation, Aortic dissection, Mitra... OMIM:175050
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:614114
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Alagille Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis, Ventricular septal defect ORPHA:52
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:277600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Duodenal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis ORPHA:100076
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Autosomal Recessive Robinow Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal ao... ORPHA:1507
Donnai-Barrow Syndrome
Ventricular septal defect OMIM:222448
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve morph... ORPHA:217085
Mosaic Trisomy 16
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:1708
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610443
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve morph... ORPHA:217093
Thauvin-Robinet-Faivre Syndrome
Mitral valve prolapse, Varicose veins, Ventricular septal defect OMIM:617107
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2