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Genes Phenotypes Help, News, Blog

Gene: Dand5 MGI:1344365

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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:
DAN domain family member 5, BMP antagonist
Synonyms:
Cerl-2,  Cerr2,  Cerl2,  coco,  Dte,  GREM3

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 Dand5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dand5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Death in child... OMIM:253300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
White Forelock With Malformations
Atrial septal defect OMIM:277740
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Coronary sinus enlargement, Partial atri... ORPHA:1330
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Death in childhood OMIM:613759
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morpho... OMIM:601612
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... OMIM:614779
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... OMIM:619371
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... OMIM:617205
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Atrioventricular canal defect, ... OMIM:618300
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Left Isomerism, Pulmonary artery atresia, Situs inversus... OMIM:619702
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Cardiomyopathy OMIM:249270
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Heterotaxy, Hypoplastic left heart, Pul... ORPHA:3426
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lo... ORPHA:1120
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Isomerism, Transposition of the great arteries, Pulmonary hypoplasia, Neonatal deat... OMIM:314390
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... OMIM:619657
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st... ORPHA:2248
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida ORPHA:2476
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... ORPHA:2847
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
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
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... OMIM:615355
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... OMIM:618316
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Umbilical hernia, Abnormal heart morphology ORPHA:352490
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Renpenning Syndrome
Heterotaxy ORPHA:3242
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... OMIM:601186
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... OMIM:601005
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Perimem... OMIM:600987
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ... OMIM:270100
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery ORPHA:1166
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy... ORPHA:2970
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Hypoplast... ORPHA:392
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
3C Syndrome
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral va... ORPHA:7
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia ORPHA:1035
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Megalencephaly
Atrial septal defect ORPHA:2477
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:615668
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Suleiman-El-Hattab Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent foramen... OMIM:618950
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus OMIM:615502
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... ORPHA:2041
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... OMIM:618282
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:601927
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Aspiration pneumonia, Lef... OMIM:619167
Thanatophoric Dysplasia Type 2
Atrial septal defect, Encephalocele, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:93274
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... ORPHA:1842
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect OMIM:611134
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect OMIM:620210
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Snijders Blok-Campeau Syndrome
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Death in infancy, Pericardial effusion, Multiple muscular ventricular septa... OMIM:620070
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood OMIM:614582
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... ORPHA:60041
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect OMIM:147800
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... OMIM:617478
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology OMIM:618494
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Transketolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:488618
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
3-Methylglutaconic Aciduria, Type V
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:610198
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect OMIM:618354
Klippel-Trénaunay Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Abnormal tri... ORPHA:90308
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ve... OMIM:208085
Meckel Syndrome, Type 7
Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri... OMIM:267010
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortopulmo... ORPHA:99050
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615879
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Pulmonary... ORPHA:1335
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... OMIM:609029
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... ORPHA:85202
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... OMIM:612582
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:618870
Trisomy 13
Atrial septal defect, Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Atr... OMIM:608149
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Atrioventricular canal defect, Abdominal situs inversus, Pulmonic sten... OMIM:619123
Filippi Syndrome
Ventricular septal defect OMIM:272440
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:606003
Woods Syndrome
Ventricular septal defect OMIM:615236
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... ORPHA:2257
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:616901
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect OMIM:614815
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Lymphatic Malformation 7
Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion, Pulmonary edema OMIM:617300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... ORPHA:3384
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:603387
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Roifman Syndrome
Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect OMIM:616651
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... ORPHA:363444
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Transposition of the great art... ORPHA:1926
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa... OMIM:616866
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Umbilical hernia, Hypert... OMIM:612938
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... OMIM:617660
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Recurrent respiratory infections ORPHA:1790
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Diets-Jongmans Syndrome
Heterotaxy, Umbilical hernia, Ventricular septal defect OMIM:618846
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Pulmonary artery s... OMIM:600001
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pleu... OMIM:616564
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele OMIM:601357
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:611553
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Atrial septal... ORPHA:26793
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... ORPHA:96170
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cardiomegaly, Patent ductus arteriosus, Recurrent pneumonia, Br... ORPHA:980
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, Neonatal death, Atrial se... OMIM:208540
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Pate... OMIM:601808
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Neonatal death, Atrial sep... OMIM:265380
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Patent ductus arteriosus OMIM:614857
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... OMIM:300963
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
3P25.3 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Right ventri... OMIM:616028
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arter... ORPHA:2008
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, Transposition of the g... OMIM:201000
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... ORPHA:209905
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus... OMIM:617303
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... OMIM:616897
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus OMIM:614846
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... ORPHA:371428
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Patent du... ORPHA:99776
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Buratti-Harel Syndrome
Atrial septal defect, Recurrent pneumonia OMIM:619314
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Alazami Syndrome
Atrial septal defect ORPHA:319671
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A... OMIM:264480
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect OMIM:615583
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Abnormal lung morphology, Patent ductus arteriosus, Ab... ORPHA:1708
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Stevenson-Carey Syndrome
Atrial septal defect OMIM:611961
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Recurrent pneumonia, Ventricular septal defect OMIM:616449
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:254346
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Pulmonary lymphang... OMIM:235510
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1488
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Pelger-Huet Anomaly
Umbilical hernia, Ventricular septal defect OMIM:169400
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi... OMIM:605275
Alagille Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Peripheral pulmonary arter... ORPHA:52
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Death in infancy, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Spina bifida occulta, Ventricular septal defect OMIM:617360
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Aortic Valve Disease 2
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis OMIM:614823
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus ORPHA:404443
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections OMIM:620194
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Ventricular septal defect ORPHA:3078
Phaver Syndrome
Pulmonary artery atresia, Myelomeningocele, Ventricular septal defect ORPHA:2876
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Abnormal lung lobation, Ventricular septal defect, Subvalvular aortic stenosis OMIM:614114
Kapur-Toriello Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:244300
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Lymphatic Malformation 13
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death OMIM:620244
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology ORPHA:1292
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Patent ductus arteriosus OMIM:617397
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Bicuspid aortic valve OMIM:619720
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Repeated pneumothoraces OMIM:617602
Distal Triplication 15Q
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:314588
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Congenital pulmona... OMIM:243150
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale ORPHA:293939
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Bdv Syndrome
Atrial septal defect OMIM:619326
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Par... OMIM:190685
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Neonatal death OMIM:311900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:617190
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... OMIM:612562
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Pleural effusion, Br... ORPHA:453499
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... OMIM:253800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Umbilical hernia, Recurrent respiratory infections OMIM:619758
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:300998
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
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus after birth at term ORPHA:251061
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:363528
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect OMIM:309520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus OMIM:618005
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Left ventricular hypertrophy, Abnormal heart valve morphology, Mitral valve... ORPHA:230851
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... OMIM:300472
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Codas Syndrome
Ventricular septal defect ORPHA:1458
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale OMIM:619184
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Death in childhood,... OMIM:600460
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... OMIM:301056
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis OMIM:614300
Pseudo-Torch Syndrome 1
Umbilical hernia, Patent ductus arteriosus, Patent foramen ovale OMIM:251290
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Abnormal cardiac ventricle morphology ORPHA:261311
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal h... ORPHA:354
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Umb... OMIM:613177
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:397709
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypop... OMIM:100300
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
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
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Anencephaly, Pulmonary hypoplas... OMIM:269860
Mogs-Cdg
Atrial septal defect, Pulmonary edema, Left ventricular hypertrophy, Cardiomegaly ORPHA:79330
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly OMIM:617022
White-Sutton Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:616364
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610443
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:261279
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale OMIM:619179
Distal Deletion 10Q
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta ORPHA:96148
Fg Syndrome Type 1
Atrial septal defect, Umbilical hernia, Mitral valve prolapse ORPHA:93932
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Pulmonary artery dilatation, Patent ductus arteriosus OMIM:613834
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... OMIM:616368
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Proximal Spinal Muscular Atrophy
Atrial septal defect, Recurrent aspiration pneumonia, Recurrent infections due to aspiration ORPHA:70
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P... OMIM:300707
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis OMIM:300867
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... ORPHA:261330
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pat... OMIM:617506
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:2637
Opitz Gbbb Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:2745
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Ventricular septal defect, Pulmonary lymphangiectasia OMIM:235255
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect ORPHA:2728
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Joubert Syndrome 14
Encephalocele, Meningocele, Ventricular septal defect OMIM:614424
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus, Pneumonia OMIM:603467
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect OMIM:620183
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:84064
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Autosomal Recessive Robinow Syndrome
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary... ORPHA:1507
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Recurrent pneumonia, Ventricular septal defect ORPHA:464738
Alg9-Cdg
Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Abnormal heart morpholog... ORPHA:79328
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal heart morphology, Atrial sep... ORPHA:505248
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus OMIM:300968
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe... OMIM:301030
Zellweger Syndrome
Death in infancy, Ventricular septal defect ORPHA:912
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Heart And Brain Malformation Syndrome
Ventricular septal defect OMIM:616920
Trisomy 1Q
Patent ductus arteriosus, Ventricular septal defect ORPHA:261344
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:602535
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Pulmoni... OMIM:602782
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Loeys-Dietz Syndrome 5
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:615582
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... ORPHA:1465
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Death in infancy, Ventricular septal defect, Death in adolescence OMIM:614866
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Abnormal lung lobation, Abnormal heart morphology, Atrial septal defect... ORPHA:369837
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:614080
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect ORPHA:457351
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardi... OMIM:610505
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Meningocele, Umbilica... OMIM:130720
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Velocardiofacial Syndrome
Ventricular septal defect, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Umb... OMIM:192430
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydrane... ORPHA:1393
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Anencephaly, Pulmonary hypoplasia OMIM:616546
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art... ORPHA:261494
Duane-Radial Ray Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect OMIM:607323
Den Hoed-De Boer-Voisin Syndrome
Recurrent lower respiratory tract infections, Ventricular septal defect, Death in adolescence OMIM:619229
Cutis Laxa, Autosomal Dominant 1
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... OMIM:617063
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect OMIM:222448
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... ORPHA:163956
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Chylothorax OMIM:153400
Lymphatic Malformation 6
Atrial septal defect, Pleural effusion, Chylothorax OMIM:616843
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Ventricular septal defect, Pulmonary hypoplasia, Death in childhood OMIM:214100
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect OMIM:257920
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia/Hypoplasia of the lung... ORPHA:2092
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Trisomy 18
Atrial septal defect, Anencephaly, Ventricular septal defect, Spina bifida ORPHA:3380
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... ORPHA:2209
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Atrial septal defe... OMIM:619268
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect ORPHA:166035
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:263520
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244450
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300712
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Recurrent aspiration pneumo... ORPHA:280633
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at... OMIM:616894
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Jacobsen Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:147791
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect OMIM:611174
Orofaciodigital Syndrome V
Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr... OMIM:309500
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lung... ORPHA:280
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect ORPHA:261323
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Recurrent respiratory infections ORPHA:398069
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... ORPHA:2369
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Umbilica... ORPHA:2962
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septa... OMIM:274000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus OMIM:618162
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:607721
Fryns Syndrome
Ventricular septal defect, Stillbirth, Chylothorax, Pulmonary hypoplasia, Atrial septal defect OMIM:229850
Mgat2-Cdg
Patent ductus arteriosus, Recurrent upper and lower respiratory tract infections, Ventricular sep... ORPHA:79329
Vici Syndrome
Recurrent respiratory infections, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, L... OMIM:242840
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:96121
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Pulmonary hypoplasia ORPHA:1692
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Atelectasis, Patent... ORPHA:567
Fontaine Progeroid Syndrome
Atrial septal defect, Death in infancy, Bicuspid aortic valve, Patent ductus arteriosus, Pneumoth... OMIM:612289
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:613457
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... OMIM:256520
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... ORPHA:3047
Pallister-Hall Syndrome
Neonatal death, Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect OMIM:146510
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Cor triatriatum, Secundum atrial septal defect, Patent ductus a... OMIM:612541
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Um... ORPHA:97360
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:277600
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:614921
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:1051
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect OMIM:300373
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:2886
Restrictive Dermopathy 1
Patent ductus arteriosus, Hydropic placenta, Stillbirth, Short umbilical cord, Neonatal death, Pu... OMIM:275210
Mucolipidosis Type Ii
Recurrent respiratory infections, Abnormal mitral valve morphology, Cardiomyopathy, Abnormal aort... ORPHA:576
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Patent foramen ovale OMIM:618454
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... ORPHA:352665
Keutel Syndrome
Peripheral pulmonary artery stenosis, Miscarriage, Ventricular septal defect, Pulmonary artery hy... OMIM:245150
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Pulmonary lymphangiectasia ORPHA:1655
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... ORPHA:363958
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal lung morphology, Patent ductus arteriosus, Abnormal lung loba... ORPHA:141127
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:163979
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, A... ORPHA:536471
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... ORPHA:1519
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Paten... OMIM:616268
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Larsen Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect OMIM:150250
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Abnormal lung lobation, Subvalvular aortic stenosis ORPHA:1052
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Hypertrophic cardiomyopathy, Pneumothorax, Hypoplastic right heart OMIM:617403
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Recurrent sinusitis OMIM:213980
Hardikar Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, ... OMIM:301068
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Respiratory tract infection, Patent ductus arteriosus, R... OMIM:180849
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia... ORPHA:818
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Atrial septal defect, Pleural effusion, Atriov... OMIM:619573
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Trichothiodystrophy
Cardiomyopathy, Recurrent bronchopulmonary infections, Umbilical hernia, Ventricular septal defect ORPHA:33364
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Cor triatriatum, Ventricular septa... OMIM:619534
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Perimembranou... ORPHA:508498
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Pulmonary artery aneur... OMIM:609192
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Stillbirth, Deat... OMIM:210710
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Juvenile Polyposis Of Infancy
Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology ORPHA:79076
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Cutis Laxa, Autosomal Recessive, Type Iic
Pneumothorax, Mitral valve prolapse, Biventricular hypertrophy, Atrial septal defect, Patent fora... OMIM:617402
Simpson-Golabi-Behmel Syndrome
Death in infancy, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Umbilical hernia ORPHA:373
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Oculoectodermal Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:600268
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... ORPHA:353281
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect OMIM:618891
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Death in infancy OMIM:609069
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Atrial septal defect, ... OMIM:139210
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Abnormal lung lobation ORPHA:2538
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Spinal dysraphism,... ORPHA:2162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Death in infancy, Patent ductus arteriosus OMIM:300868
Jacobsen Syndrome
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Spina bifida, Hypo... ORPHA:2308
Phace Association
Patent ductus arteriosus, Ventricular septal defect OMIM:606519
Cranioectodermal Dysplasia 2
Patent ductus arteriosus, Recurrent pneumonia, Atrial septal defect, Left ventricular hypertrophy... OMIM:613610
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... OMIM:280000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620005
Zttk Syndrome
Atrial septal defect, Patent ductus arteriosus, Unilateral lung agenesis, Ventricular septal defect OMIM:617140
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect ORPHA:522077
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Double outlet right ventricle,... OMIM:300166
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... OMIM:157800
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Fanconi Anemia
Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve... ORPHA:84
Smith-Lemli-Opitz Syndrome
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Pu... OMIM:270400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Atrial septal defect, Patent foramen ovale, Rig... OMIM:620186
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Umbilical hernia, Aortic ... OMIM:608328
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... ORPHA:363700
Oculodentodigital Dysplasia
Umbilical hernia, Ventricular septal defect ORPHA:2710
Trichohepatoenteric Syndrome 1
Large placenta, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Costello Syndrome
Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... OMIM:218040
Penile Agenesis
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:49
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Recurrent respiratory infections, Mitral valve prolapse, Abnormal heart mor... OMIM:615873
Esophageal Atresia
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pulmonary hypoplasia, Te... ORPHA:1199
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Dilatation of the ve... OMIM:619991
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Miscarriage, Large placenta, Pulmonary artery stenosis, Spinal dysraph... ORPHA:96334
Alagille Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery... OMIM:118450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:438213
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve OMIM:271640
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect OMIM:619512
Diamond-Blackfan Anemia 1
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Tricuspid stenosis OMIM:105650
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Transposition of th... ORPHA:1662
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... ORPHA:97214
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... ORPHA:459070
Bent Bone Dysplasia Syndrome 2
Atrial septal defect OMIM:620076
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pneumothorax, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, Umbilical he... OMIM:601776
Degcags Syndrome
Ventricular septal defect, Pneumonia, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal ... OMIM:619488
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Pleural effusion, Chylothorax ORPHA:2526
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:618268
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Chylothorax, Pulmonic stenosis, Atrial septa... OMIM:163950
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Patent ductus arter... ORPHA:955
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Oculodentodigital Dysplasia
Atrial septal defect OMIM:164200
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Goldberg-Shprintzen Syndrome
Ventricular septal defect OMIM:609460
Cerebrocostomandibular Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:117650
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect OMIM:614653
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Ventricular septal defect, Pulmonary hypoplasia, Aortopulmonary window OMIM:620025
Diamond-Blackfan Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology ORPHA:124
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembrano... OMIM:612474
Histiocytoid Cardiomyopathy
Pulmonary edema, Ventricular septal defect, Cardiomegaly ORPHA:137675
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Ventricular septal defect OMIM:619418
Turnpenny-Fry Syndrome
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valv... OMIM:618371
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Spontaneous pneumothorax, Patent ductus arteriosus, Bicuspid pulmonary val... OMIM:610168
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... ORPHA:353277
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Abnormal lung lob... OMIM:236680
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect ORPHA:464311
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aspiration pneumo... ORPHA:444077
Williams Syndrome
Abnormal endocardium morphology, Death in early adulthood, Recurrent respiratory infections, Over... ORPHA:904
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia OMIM:122470
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:616975
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale OMIM:613884
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Mycophenolate Mofetil Embryopathy
Ventricular septal defect ORPHA:268249
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Fanconi Anemia, Complementation Group C
Ventricular septal defect OMIM:227645
Dyrk1A-Related Intellectual Disability Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect ORPHA:464306
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus ... ORPHA:508488
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Congenital pulmonary airway malformation ORPHA:436252
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Tetralogy ... OMIM:135900
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Patent ductus arteriosus, Pneumothorax, Pu... OMIM:619472
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... OMIM:214800
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... OMIM:235730
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Hajdu-Cheney Syndrome
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Recurrent upper respiratory tract infections, Neonatal death, Death in childhoo... OMIM:308205
Feingold Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Poland Syndrome
Atrial septal defect, Encephalocele, Spina bifida occulta, Dextrocardia ORPHA:2911
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Spina bifida occulta, Ventricular septal defect, Mitral valv... ORPHA:500095
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect OMIM:269150
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus, Pul... ORPHA:363611
Orofaciodigital Syndrome Xiv
Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cardiomyopathy, Tota... OMIM:312870
Catel-Manzke Syndrome
Umbilical hernia, Overriding aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Patent ductus arteriosus, Pneumothorax, Mitral va... OMIM:613795
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... OMIM:143095
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Recurrent upper and ... ORPHA:672
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ... OMIM:194050
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:617107
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
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis OMIM:250220
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Patent ductus arteriosus after birth at term, Abnormal heart morphology... ORPHA:500150
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia OMIM:147920
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Johanson-Blizzard Syndrome
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Death in childhood, At... OMIM:243800
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Floating-Harbor Syndrome
Atrial septal defect, Umbilical hernia, Mesocardia OMIM:136140
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect OMIM:194190
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:606170
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve OMIM:619475
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Umbilical hernia, Stillbirth, Spina bifida OMIM:304120
Digeorge Syndrome
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Recurrent ... OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart ORPHA:99413
Mosaic Monosomy X
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart ORPHA:99228
Monosomy X
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart ORPHA:99226
Turner Syndrome
Atrial septal defect, Bicuspid aortic valve, Hypoplastic left heart ORPHA:881
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619522
Peters-Plus Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Umb... OMIM:261540
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Frontal encephalocele, Stillbirth, Atrial se... OMIM:268300
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect OMIM:300896
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Recurrent upper and lower respiratory tract infections, Pat... ORPHA:480880
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Tetralogy of Fallot ORPHA:2044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:616682
Sotos Syndrome
Ventricular septal defect, Small cell lung carcinoma, Patent ductus arteriosus, Abnormal heart mo... ORPHA:821
Townes-Brocks Syndrome 1
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Recurrent pneumonia, Ventricular septal defect, Recurrent bronchitis OMIM:620330
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h... OMIM:619503
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect ORPHA:513456
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Aortic valve stenosis, Pulmonary... OMIM:601803
Ulnar-Mammary Syndrome
Ventricular septal defect OMIM:181450
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Patent fora... OMIM:216340
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, ... OMIM:164210

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 Dand5

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 Dand5.

No publications found that use IMPC mice or data for Dand5.

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
Dand5tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Dand5tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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