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Gene: Sema3d MGI:1860118

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

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

Download data as:  TSV  XLS

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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 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis OMIM:234810
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlar... ORPHA:75249
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... ORPHA:1120
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pu... ORPHA:199241
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... ORPHA:90308
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Pulmona... ORPHA:2847
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Myofib... OMIM:619424
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... OMIM:270100
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Telangiectasia ORPHA:101028
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension OMIM:300887
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... OMIM:265120
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... OMIM:601927
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... OMIM:615355
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... OMIM:618316
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... OMIM:601186
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... OMIM:617300
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... OMIM:616028
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation OMIM:615476
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo... OMIM:615668
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... OMIM:600987
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Megalencephaly
Atrial septal defect ORPHA:2477
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm OMIM:301039
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... OMIM:618282
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology ORPHA:352490
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring OMIM:603387
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pneumonia, Pericardial effusion, D... ORPHA:26793
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... OMIM:618494
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... OMIM:616368
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale ORPHA:88630
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... ORPHA:1842
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy... ORPHA:2970
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a... OMIM:614857
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure ORPHA:500533
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... OMIM:606003
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
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
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... ORPHA:2257
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... OMIM:616866
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... ORPHA:2519
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... OMIM:612863
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Suleiman-El-Hattab Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent foramen... OMIM:618950
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Ab... ORPHA:7
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Unilateral Polymicrogyria
Stroke, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aort... OMIM:267010
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defec... OMIM:618870
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
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
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Atr... OMIM:608149
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:93274
Stevenson-Carey Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus OMIM:611961
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return ORPHA:2311
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... OMIM:612582
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower respiratory tract infection... OMIM:620233
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... OMIM:609029
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... OMIM:300963
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... ORPHA:284227
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Trisomy 13
Atrial septal defect, Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia OMIM:619314
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Alagille Syndrome
Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Periph... ORPHA:52
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong... OMIM:601808
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... ORPHA:254346
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis OMIM:202650
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypoplasia, Atrial septal d... ORPHA:1335
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur ORPHA:2728
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... ORPHA:209905
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Epi... ORPHA:293939
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Su... OMIM:614114
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... OMIM:602782
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Right bundle branch block, Hypertension, Mi... OMIM:614008
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Lymphatic Malformation 13
Patent ductus arteriosus, Mitral regurgitation, Atrial septal defect, Pulmonary arterial hyperten... OMIM:620244
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... OMIM:301068
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
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
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Alazami Syndrome
Atrial septal defect ORPHA:319671
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Congestive heart failure, Recurrent bronchopulmonary infections... OMIM:617303
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces OMIM:617190
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve OMIM:619720
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... OMIM:201000
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
Mosaic Trisomy 16
Ventricular septal defect, Abnormal lung morphology, Patent ductus arteriosus, Abnormal heart mor... ORPHA:1708
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi... ORPHA:314588
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Coarctation of aorta, Aortic root aneurysm, A... OMIM:617602
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:261279
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Noonan Syndrome 13
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections OMIM:620194
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:1790
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Congestive heart failure,... ORPHA:505248
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Spontaneous pneumothorax, Arterial tortuosity, Desce... OMIM:610168
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Kapur-Toriello Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:244300
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... OMIM:612562
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... OMIM:300998
Bdv Syndrome
Atrial septal defect OMIM:619326
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Recurrent respiratory infections OMIM:619758
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Desmosterolosis
Patent ductus arteriosus, Total anomalous pulmonary venous return OMIM:602398
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Secundum atrial s... OMIM:612541
Lymphatic Malformation 6
Varicose veins, Pleural effusion, Chylothorax, Atrial septal defect, Intestinal lymphangiectasia OMIM:616843
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Patent ductus arteriosu... ORPHA:99776
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:363528
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:84064
Proximal Spinal Muscular Atrophy
Atrial septal defect, Recurrent infections due to aspiration, Bradycardia, Recurrent aspiration p... ORPHA:70
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus OMIM:618005
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morphology, Melena, Hematoc... ORPHA:79076
Fg Syndrome Type 1
Atrial septal defect, Pulmonary arterial hypertension, Coarctation of aorta, Mitral valve prolapse ORPHA:93932
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus after birth at term ORPHA:251061
Loeys-Dietz Syndrome 5
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio... OMIM:615582
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:397709
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v... ORPHA:163956
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... ORPHA:464738
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy OMIM:619121
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... OMIM:309801
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
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
Mogs-Cdg
Atrial septal defect, Pulmonary edema, Left ventricular hypertrophy, Cardiomegaly ORPHA:79330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Opitz Gbbb Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s... ORPHA:2745
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Patent ductus arteriosus, Total anomalous pulmonary venous return, Abnormal heart morphology ORPHA:487796
Renal-Hepatic-Pancreatic Dysplasia 1
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, Atri... OMIM:208540
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale OMIM:251290
Ogden Syndrome
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... OMIM:300855
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
White-Sutton Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:616364
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... ORPHA:163979
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Varicose veins, Arrhythmia, Abnormality of the pulmonary vasculature ORPHA:33001
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect OMIM:620183
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale OMIM:619179
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Ascen... OMIM:617403
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary arterial hyperten... ORPHA:280633
Alg9-Cdg
Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation,... ORPHA:79328
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Atrial septal ... ORPHA:261330
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Abnormal atrioventricular valve physiolog... ORPHA:576
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Rec... OMIM:607143
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus, Pneumonia OMIM:603467
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Distal Deletion 10Q
Atrial septal defect, Patent ductus arteriosus ORPHA:96148
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Emp... OMIM:613177
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra... ORPHA:391487
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ... OMIM:617402
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Abnormal lung lobation, Abnormal heart morphology, Atrial septal defect... ORPHA:369837
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus OMIM:300968
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Heart murmur, Mitral re... OMIM:614866
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morphology, S... ORPHA:1052
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Vici Syndrome
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... OMIM:242840
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect, Vascular dilatation OMIM:607323
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus OMIM:618162
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Pulmonary hypoplasia OMIM:263520
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect ORPHA:457351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:614080
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:602535
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Pulmonary hypoplasia ORPHA:2886
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Reti... ORPHA:567
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, Third degree a... OMIM:619573
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... ORPHA:1465
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplas... ORPHA:2092
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Internal carotid artery dissection, Bicuspid aortic valve, Cere... OMIM:150230
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec... OMIM:257920
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cardiomyopathy, Tota... OMIM:312870
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... ORPHA:96121
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:1051
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... ORPHA:1519
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... OMIM:620005
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hyp... OMIM:618454
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm OMIM:618891
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmona... ORPHA:536471
Combined Oxidative Phosphorylation Deficiency 3
Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c... OMIM:610505
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect ORPHA:261323
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Khan-Khan-Katsanis Syndrome
Bilateral superior vena cava with no bridging vein, Tricuspid regurgitation, Patent foramen ovale... OMIM:618460
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Recurrent respiratory infections ORPHA:398069
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353281
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Arteria lusoria, Heart murmur OMIM:618653
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Patent ductus arteriosus, Coarctation of aorta, Interrupted aor... ORPHA:17
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Jacobsen Syndrome
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:147791
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Pulmonary hypoplasia, Patent fo... OMIM:269860
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Fanconi Anemia
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A... ORPHA:84
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363958
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Cranioectodermal Dysplasia 2
Patent ductus arteriosus, Recurrent pneumonia, Hypertension, Atrial septal defect, Left ventricul... OMIM:613610
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, At... OMIM:105650
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... ORPHA:3047
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Respiratory tract infection, Patent ductus arteriosus, Recurrent upper... OMIM:180849
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:274000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:352665
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Heart murmur, Mitral valve prolapse, Abnormal heart morphology,... OMIM:615873
Costello Syndrome
Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis, Arrhythmia, At... OMIM:218040
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300373
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Recurrent sinusitis OMIM:213980
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Paten... OMIM:616268
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Pneumothorax, Mitral valve prolapse, Mitral regurg... OMIM:601776
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Atrial septal defect, Pulmonary arterial hypertension, Patent f... OMIM:620186
Degcags Syndrome
Tachycardia, Ventricular septal defect, Pneumonia, Patent ductus arteriosus, Persistent left supe... OMIM:619488
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... OMIM:300166
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... ORPHA:124
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve pr... OMIM:618371
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619512
Zttk Syndrome
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arterios... OMIM:617140
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353277
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chylothorax, Pulmonic ... OMIM:163950
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lung... ORPHA:280
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal defect, Pulmo... ORPHA:363611
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Dilatation of the ve... OMIM:619991
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia... ORPHA:818
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Abnormal lung lobation ORPHA:2538
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... ORPHA:459070
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect ORPHA:522077
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta... OMIM:270400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation OMIM:271640
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Bent Bone Dysplasia Syndrome 2
Atrial septal defect OMIM:620076
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Fryns Syndrome
Atrial septal defect, Chylothorax, Ventricular septal defect, Pulmonary hypoplasia OMIM:229850
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99228
Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99226
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Cardiomyopathy, Atrial sep... ORPHA:373
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Penile Agenesis
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:49
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Patent ductus arteriosus OMIM:300868
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Pleural effusion, Chylothorax ORPHA:2526
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Hypertension... OMIM:210710
Cerebrocostomandibular Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:117650
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Pulmonary ... ORPHA:96334
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Renpenning Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis OMIM:309500
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage ORPHA:93126
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... OMIM:214800
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transpos... OMIM:614976
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... ORPHA:1662
Limb Body Wall Complex
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology ORPHA:2369
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phenomenon, Abnormal ca... ORPHA:3310
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hyper... OMIM:619127
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Patent foramen ovale OMIM:300990
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus after birth at term... ORPHA:500150
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect OMIM:609069
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension OMIM:300896
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect OMIM:269150
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... OMIM:135900
Poland Syndrome
Atrial septal defect, Dextrocardia ORPHA:2911
Restrictive Dermopathy 1
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:275210
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... OMIM:147920
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of the g... OMIM:256520
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta... ORPHA:672
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
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619522
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect OMIM:194190
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:606170
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrial septal defect, Hypertension, Recurrent upper respiratory tract infections, Corneal neovasc... OMIM:308205
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Johanson-Blizzard Syndrome
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... OMIM:243800
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Sotos Syndrome
Ventricular septal defect, Small cell lung carcinoma, Patent ductus arteriosus, Abnormal heart mo... ORPHA:821
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Dilatation of the sinus of Valsalva OMIM:304120
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:268300
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Aortic valve stenosis,... OMIM:601803
Hirschsprung Disease
ORPHA:388

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 Sema3d

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 Sema3d.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Subepicardial endothelial cells invade the embryonic ventricle wall to form coronary arteries. Cell research (June 2013) Sema3dtm1a(KOMP)Bz PMC3760626

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sema3dtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sema3dtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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