Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
Synonyms:
4631426B19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Sema3dtm1b(KOMP)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

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 Sema3d mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sema3d by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hirschsprung Disease
ORPHA:388

The table below shows human diseases predicted to be associated to Sema3d by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Recurrent respiratory infections OMIM:617744
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Coronary Arterial Fistula
Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestiv... ORPHA:2041
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Atrioventricular canal defect DECIPHER:39
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Pneumonia, Arrhy... ORPHA:99104
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Cardiac Diverticulum
Tricuspid atresia, Pulmonary artery hypoplasia, Premature ventricular contraction, Dextrocardia, ... ORPHA:1686
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... ORPHA:1120
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic ... OMIM:185500
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphol... ORPHA:199241
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Congestive heart failure, Atrial septa... ORPHA:1880
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... ORPHA:392
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Abnormal left ventricular function, Hype... ORPHA:75249
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Bi... OMIM:613355
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotransposition of ... OMIM:619657
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hemorrhage, Atria... ORPHA:90308
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteriosclerosis, Arteritis, Atherosclerosis, Vasculitis... ORPHA:494424
Meacham Syndrome
Tetralogy of Fallot, Pulmonary sequestration, Aplasia/Hypoplasia of the lungs, Patent ductus arte... ORPHA:3097
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Scimitar anomaly, Dextrocard... OMIM:608978
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Absence Of The Pulmonary Artery
Atrial fibrillation, Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent foramen ovale, Pa... ORPHA:980
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Congestive... ORPHA:99094
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Tetralogy of Fallot, Pulmonary arterial hypertension, Ventricular hypertrophy OMIM:300887
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT inte... OMIM:601005
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Primary Ciliary Dyskinesia
Respiratory tract infection, Situs inversus totalis, Double outlet right ventricle, Abnormal atri... ORPHA:244
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, P... ORPHA:2847
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:601450
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Hypertension, Ventricular septal defect, Tachycardia OMIM:613870
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Telangiectasia, Coarctation of aorta ORPHA:101028
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Biventricular hypertrophy, Left ventricular non... OMIM:619424
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
46,Xx Sex Reversal 5
Hypoplastic left heart, Ventricular septal defect, Secundum atrial septal defect OMIM:618901
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Lymphatic Malformation 7
Atrial septal defect, Varicose veins, Pericardial effusion, Pulmonary edema OMIM:617300
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Pulmonary artery atresia, Ventricular septal def... ORPHA:401935
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Bilateral trilobed lungs, Total anomalous pulmonary venous return, Patent... OMIM:270100
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal def... OMIM:126320
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:614300
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Ve... OMIM:608406
Alagille Syndrome 2
Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary artery stenosis, Pulmonic stenosi... OMIM:610205
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Patent d... ORPHA:95430
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Ventricular septal defect OMIM:613458
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:615355
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Patent ductus arteriosus, Patent foramen ovale, Tetralogy of Fallot with abs... OMIM:239711
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Vascular ring, ... OMIM:601927
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Oligomeganephronia
Pulmonary hypoplasia, Hypertension, Secundum atrial septal defect, Pulmonary venous occlusion ORPHA:2260
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Arteria lusoria, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Bicuspid... OMIM:619149
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Congenital Rubella Syndrome
Atrial septal defect, Abnormality of the pulmonary artery, Ventricular septal defect, Patent duct... ORPHA:290
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspid valve, ... OMIM:618280
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:616028
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defec... OMIM:601186
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... ORPHA:210122
Telangiectasia, Hereditary Hemorrhagic, Type 1
Right-to-left shunt, Gastrointestinal hemorrhage, Cerebral arteriovenous malformation, Nail bed t... OMIM:187300
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... OMIM:179613
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Patent ductus arteriosus, Prominent... ORPHA:363705
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... ORPHA:3304
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:600987
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect, Mitral regurgitation OMIM:603387
Tatton-Brown-Rahman Syndrome
Atrial septal defect OMIM:615879
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:248950
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect OMIM:618109
Transketolase Deficiency
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal coronary artery co... ORPHA:488618
Megalencephaly
Atrial septal defect ORPHA:2477
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral arteriovenous malformation, Nail bed telangiectasia, Hepatic arteriovenous malformation,... OMIM:600376
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis ORPHA:75389
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent pneumonia, Recurrent upper respiratory tract infections, Patent ductus arteriosus, Atri... OMIM:619769
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology ORPHA:352490
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Coarctation of aorta OMIM:614857
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Patent foramen ovale, Patent ductus arteriosus OMIM:616867
Cat Eye Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return OMIM:115470
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale OMIM:614261
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... ORPHA:1842
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm OMIM:301039
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Patent foramen ovale, Arrhythmia, Ve... ORPHA:26793
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect OMIM:611926
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:612541
Transaldolase Deficiency
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta, Ventr... OMIM:606003
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Atrioventricular canal defect OMIM:600123
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... ORPHA:3426
Prune Belly Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal def... ORPHA:2970
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:300963
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspi... OMIM:612863
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Patent ductus a... ORPHA:2519
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect OMIM:608571
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Recurrent respiratory infectio... OMIM:609029
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Meckel Syndrome, Type 7
Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Situs inversus totalis, Righ... OMIM:267010
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Elevated bronchoalveolar lavage flui... OMIM:610978
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure ORPHA:500533
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:616564
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Atrial septal defect, Left-to-right shunt, Muscular ventricular septal ... ORPHA:363444
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect, Pulmonary artery stenosis OMIM:301030
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture OMIM:619115
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Kagami-Ogata Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:608149
Primary Pulmonary Hypoplasia
Dextrocardia, Recurrent respiratory infections, Pneumothorax, Secundum atrial septal defect, Abno... ORPHA:2257
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Bicuspid aortic valve, Vent... ORPHA:329224
Stevenson-Carey Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus OMIM:611961
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Thanatophoric Dysplasia Type 2
Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:93274
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Aica-Ribosuria Due To Atic Deficiency
Atrial septal defect OMIM:608688
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effusion, Endocardial fibroelas... OMIM:619313
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Coarctation of aorta, Hypertension, Ventricu... ORPHA:371428
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Mitral valve prolapse, Patent foramen ovale OMIM:615539
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Pulmonary arte... OMIM:616777
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Mental Retardation, Buenos Aires Type
Atrial septal defect OMIM:249630
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618870
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Suleiman-El-Hattab Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent foramen... OMIM:618950
Dextrocardia
T-wave inversion, Abnormal EKG, Congenital malformation of the great arteries, Dextrocardia, Situ... ORPHA:1666
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Patent foramen ovale, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphology, B... ORPHA:500159
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Mitral stenosis OMIM:617660
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Situs inversus totalis, Partial atrioventricular canal defect OMIM:619608
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Cardiomyopathy, Secundu... OMIM:616866
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... OMIM:600001
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy OMIM:208085
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Mitral regurgitation, Supra... ORPHA:404443
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Subvalvular aortic stenosis, Ventricular septal defect, Peripheral pulmonar... OMIM:613001
Unilateral Polymicrogyria
Abnormal heart morphology, Pulmonary arteriovenous malformation, Epistaxis ORPHA:268943
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Aortic regurgitation, Pulmonary insufficiency, Aortic root aneur... ORPHA:230851
Noonan Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, C... OMIM:605275
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return ORPHA:2311
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Chromosome 9P Deletion Syndrome
Atrial septal defect, Heart murmur, Ventricular septal defect, Patent ductus arteriosus OMIM:158170
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coronary artery atherosclerosi... ORPHA:435638
Trisomy 13
Atrial septal defect, Abnormal lung lobation, Ventricular septal defect, Patent ductus arteriosus ORPHA:3378
Ogden Syndrome
Torsade de pointes, Premature ventricular contraction, Arrhythmia, Atrial septal defect, Ventricu... OMIM:300855
Cardioacrofacial Dysplasia 2
Left superior vena cava draining to coronary sinus, Common atrium, Atrioventricular canal defect OMIM:619143
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Telangiectasia, Intracra... ORPHA:284227
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, ... OMIM:121050
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia ORPHA:485405
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:612582
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, Ventricular septal de... ORPHA:1335
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta OMIM:617159
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Mitral regurgitation, Aortic root aneurysm, Congestive heart failure, Coronary artery ... ORPHA:363618
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur ORPHA:2728
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Congestive heart failure, Dysplastic aortic valve, Atrial septal defect... OMIM:601808
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Patent foramen ovale, Atrial septal defect, Pulmonary arterial hypertension,... ORPHA:209905
Alagille Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis, Telangiectasia of the skin, Hypertens... ORPHA:52
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertension, Hy... OMIM:100300
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Pneumothorax, Ventricular septal defect, Coarctation of aorta OMIM:617602
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Bradycardia, Pleural effusion, Secundum atrial septal defect, Cerebral ... OMIM:617397
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Hypoplastic aortic arch, Abnormal cardiac ventricle morphology, Hematochezia ORPHA:261311
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arrhythmia, Atrial septal defect, Ventricular septal defect, Mitral regurgi... ORPHA:254346
Acrocardiofacial Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Mitral stenosis, Ventricular sep... ORPHA:2008
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Recurrent respiratory infectio... ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614576
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Atrial septal defect, Subvalvular aortic stenosis, Coarctation of aorta, Ve... OMIM:614114
Histiocytosis-Lymphadenopathy Plus Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Facial telangiectasia, Pulmona... OMIM:602782
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Co... OMIM:264480
Distal Xq28 Microduplication Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Patent foramen ovale, Patent ductus arte... ORPHA:293939
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... ORPHA:2255
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Patent ductus arteriosus, Congestive heart failure, Atrial septal defect, Hy... OMIM:617303
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Loeys-Dietz Syndrome 1
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary artery aneurysm, ... OMIM:609192
Buratti-Harel Syndrome
Atrial septal defect, Recurrent pneumonia OMIM:619314
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Aortic root aneurysm OMIM:145420
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:457193
Noonan Syndrome 3
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy... OMIM:609942
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Recombinant 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, P... ORPHA:96167
Alazami Syndrome
Atrial septal defect ORPHA:319671
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, Ven... ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Hardikar Syndrome
Portal hypertension, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Partia... OMIM:301068
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:261279
Hyperphosphatasia With Mental Retardation Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Sinus tachycardia, Prominent superficial veins, Right bundle branch blo... OMIM:614008
Carpenter Syndrome 1
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricul... OMIM:201000
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse, Mitral regurgitation OMIM:619087
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale, Arrhythmia OMIM:619184
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Patent ductus arteriosus, Bicuspid pulmonary valve, Pulmonic ... ORPHA:709
Congenital Disorder Of Glycosylation, Type Ig
Recurrent respiratory infections, Patent foramen ovale, Patent ductus arteriosus, Respiratory tra... OMIM:607143
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Atrial septal defect, H... ORPHA:505248
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Secundum atrial septal defect, Situs inversus totalis OMIM:202650
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:617061
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610168
Thanatophoric Dysplasia Type 1
Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:1860
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Mosaic Trisomy 16
Patent ductus arteriosus, Single coronary artery origin, Atrial septal defect, Coarctation of aor... ORPHA:1708
Distal Tetrasomy 15Q
Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, Hypoplastic aortic arc... ORPHA:314588
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:220500
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Kniest-Like Dysplasia, Lethal
Atrial septal defect, Arrhythmia, Patent ductus arteriosus OMIM:245190
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:244300
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:1790
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse OMIM:605822
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, Secundum atrial septal ... OMIM:612562
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Dextrocardia, Abnormal aortic valve morphology ORPHA:261197
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Atrial septal defect, Pleural effusion, Thyroid lymphangiectasia, Ve... OMIM:235510
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent foramen ovale, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Mitra... OMIM:617506
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Congestive heart failure, Left-to-right shunt,... ORPHA:1600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis OMIM:618223
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormal heart morphology, Ventricular septal defect, Patent foramen ovale ORPHA:369891
Sotos Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:117550
Mosaic Trisomy 9
Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosis, Atrial sep... ORPHA:99776
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Transposition of the great arter... OMIM:253800
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Atrial septal defect, Recurrent respiratory infections, Arterial stenos... ORPHA:2637
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart fa... OMIM:617403
Kabuki Syndrome 2
Atrial septal defect, Coarctation of aorta, Pulmonic stenosis, Atrioventricular canal defect OMIM:300867
Desmosterolosis
Total anomalous pulmonary venous return, Patent ductus arteriosus OMIM:602398
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Arrhythmia, Histiocytoid cardiomyopathy, Atrial septal defect, Ventricular sept... OMIM:309801
Syndromic Diarrhea
Tetralogy of Fallot, Aortic regurgitation, Patent ductus arteriosus, Atrial septal defect, Periph... ORPHA:84064
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
Monosomy 13Q34
Epistaxis, Hematochezia, Common atrium, Pulmonic stenosis ORPHA:96168
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Patent ductus arteriosus, Atrial septal defect, Abnorm... ORPHA:79076
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Patent foramen ovale, Pulmonary artery stenosis, Vascular dilatation, Pulmonary hypopl... OMIM:613177
Bdv Syndrome
Atrial septal defect OMIM:619326
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis OMIM:300998
Lymphatic Malformation 6
Intestinal lymphangiectasia, Chylothorax, Atrial septal defect, Pleural effusion, Varicose veins OMIM:616843
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:208540
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia, Recurrent aspiration pneumonia, Recurrent infections due to as... ORPHA:70
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:397709
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricl... ORPHA:163956
Brachytelephalangic Chondrodysplasia Punctata
Patent ductus arteriosus, Atrial septal defect, Recurrent respiratory infections, Ventricular sep... ORPHA:79345
Holt-Oram Syndrome
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect, Secundum atrial sept... OMIM:142900
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Vent... ORPHA:2473
Loeys-Dietz Syndrome 3
Atrial fibrillation, Ventricular hypertrophy, Mitral regurgitation, Left ventricular hypertrophy,... OMIM:613795
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Loeys-Dietz Syndrome 5
Patent foramen ovale, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Mitr... OMIM:615582
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Patent foramen ovale, Coarctation of aorta, Hypoplastic left heart, Ventricu... OMIM:618748
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... OMIM:617063
Oculoectodermal Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Coarctation of aorta... OMIM:600268
Ellis Van Creveld Syndrome
Emphysema, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Atrial septal defect... ORPHA:289
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Cerebral arteriovenous malfor... ORPHA:2929
Fg Syndrome Type 1
Atrial septal defect, Pulmonary arterial hypertension, Mitral valve prolapse, Coarctation of aorta ORPHA:93932
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal de... ORPHA:464738
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Atrial septal defect, Heart murmur, Ventricular septal defect, Interrup... ORPHA:163979
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Atrial septal defect, Pulmonary artery sling, V... OMIM:619268
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:363528
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus OMIM:618162
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Bic... OMIM:610759
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Atrial septal defect, Biventricular hypertrophy, Right bundle branch block,... OMIM:617402
Zaki Syndrome
Patent foramen ovale, Patent ductus arteriosus OMIM:619648
Pseudo-Torch Syndrome 1
Patent foramen ovale, Patent ductus arteriosus OMIM:251290
Mogs-Cdg
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Pulmonary edema ORPHA:79330
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:616364
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Lymphedema-Distichiasis Syndrome
Arrhythmia, Abnormality of the pulmonary vasculature, Varicose veins, Patent ductus arteriosus ORPHA:33001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Pleural effusion, Abnormal heart morphology, Bicuspid aortic valve, Ventric... ORPHA:453499
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonic stenosis, Ventricu... OMIM:610443
Alg9-Cdg
Abnormal lung lobation, Right ventricular dilatation, Atrial septal defect, Abnormal heart morpho... ORPHA:79328
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Patent foramen ovale, Aortic regurgitation, Pulmonary... ORPHA:576
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:610505
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale OMIM:619179
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Cardiome... OMIM:245600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:487796
Opitz Gbbb Syndrome
Patent foramen ovale, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Coarc... ORPHA:2745
Distal Monosomy 10Q
Atrial septal defect, Patent ductus arteriosus ORPHA:96148
Fanconi Anemia, Complementation Group F
Atrial septal defect, Pneumonia, Patent ductus arteriosus OMIM:603467
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Atrial septal defect, Tricuspid regurgitation, Aortic regurgitation, Bronchiectasis OMIM:601347
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse, Patent ductus arteriosus ORPHA:251066
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Patent ductus arteriosus, Hypoplastic right heart, Pulmonary artery atresia... OMIM:616894
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Patent foramen ovale, Ventricular hypertrophy OMIM:602613
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation OMIM:611174
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Secundum atrial septal defect OMIM:619121
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Atrial septal defect, Aortic aneurysm, Recurrent respiratory infections, Ve... ORPHA:261330
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mor... OMIM:618454
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:300712
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Khan-Khan-Katsanis Syndrome
Abnormal heart morphology, Tricuspid regurgitation, Patent foramen ovale, Patent ductus arteriosus OMIM:618460
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus OMIM:300968
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Recurrent upper respiratory tract infections, Patent fora... ORPHA:391487
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pleural effusion, Pulmonary arterial hypertension, Pulmonary arterioveno... OMIM:606721
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Patent ductus arteriosus, Atrial septal def... OMIM:300967
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyop... ORPHA:369837
3Mc Syndrome 1
Atrial septal defect, Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arter... OMIM:257920
Frank-Ter Haar Syndrome
Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Ventricular septal def... OMIM:249420
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Perip... ORPHA:280633
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Aortic regurgitation, Atrial septal defect, Subvalvular aortic stenos... ORPHA:1052
Partial Deletion Of The Short Arm Of Chromosome 7
Patent ductus arteriosus after birth at term, Partial anomalous pulmonary venous return ORPHA:261911
Opitz gbbb syndrome, type II
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta, Pulmonary arterial hyperten... OMIM:145410
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Patent ductus arteriosus, Premature ventricular con... OMIM:602535
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Pulmonary hypoplasia OMIM:263520
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Coffin-Siris Syndrome
Tetralogy of Fallot, Recurrent upper respiratory tract infections, Patent ductus arteriosus, Atri... ORPHA:1465
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect, Vascular dilatation OMIM:607323
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Aorti... ORPHA:96121
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:614080
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia, Persistent left superior vena cava ORPHA:2886
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventr... OMIM:607721
Viss Syndrome
Carotid artery tortuosity, Double outlet right ventricle, Ventricular septal defect, Emphysema, P... OMIM:619472
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Atrial septal defect, Biventricular hypertrophy, Third degree atrioventri... OMIM:619573
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Atrial septal defect, Ventricular sept... ORPHA:1519
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:1051
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect ORPHA:457351
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Gastro... ORPHA:567
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Telangiectasia of the skin, Ventricula... ORPHA:2092
Diamond-Blackfan Anemia 1
Congestive heart failure, Atrial septal defect, Tricuspid stenosis, Coarctation of aorta, Ventric... OMIM:105650
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Patent ductus arteriosus, Arrhythmia, Atrial septal defe... OMIM:312870
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left h... OMIM:301043
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm OMIM:618891
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Left-to-right shunt, Dextrocardia, Ventricular septal defect, Inlet ventricular s... OMIM:619534
Codas Syndrome
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:600373
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent foramen ovale, Patent ductus arteriosus, Atrial septal... ORPHA:466791
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Recurrent respiratory infections ORPHA:398069
Robinow Syndrome
Tricuspid atresia, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Abnormal heart ... ORPHA:97360
Myhre Syndrome
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta, Hypertension, Ventricular s... OMIM:139210
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect OMIM:609069
Floating-Harbor Syndrome
Atrial septal defect, Persistent left superior vena cava, Mesocardia, Coarctation of aorta OMIM:136140
Larsen Syndrome
Atrial septal defect, Aortic aneurysm, Ventricular septal defect OMIM:150250
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect ORPHA:261323
Alg12-Cdg
Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosus, Biventricular hypertrophy, M... ORPHA:79324
Jacobsen Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:147791
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta OMIM:274000
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Atrial septal defect, Prominent scalp veins, Pulmonic stenosis, ... ORPHA:536471
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Pneumothorax OMIM:601776
Microgastria-Limb Reduction Defects Association
Abnormal lung lobation, Type I truncus arteriosus, Secundum atrial septal defect OMIM:156810
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Prominent superficial veins, Atrial septal defect, Pulmonary arterial h... OMIM:612289
Cranioectodermal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Hypertension, Left ventricu... OMIM:613610
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal tricuspid valve morphology, At... ORPHA:1507
Alagille Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary artery stenosis, Coarctation of a... OMIM:118450
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Heart murmur, Patent foramen ovale, Arteria lusoria OMIM:618653
Fanconi Anemia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy,... ORPHA:84
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Omodysplasia 1
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis OMIM:258315
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coarctation of aort... ORPHA:353281
Turnpenny-Fry Syndrome