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 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... OMIM:265450
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Pulmonary arterial hypertension, Total anomalous ... OMIM:106700
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension OMIM:234810
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m... ORPHA:185
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria... ORPHA:99105
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Stroke, Supraventricular arrhythmia, Transie... ORPHA:99104
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Aortic aneurysm, Abnormal ST segment, Myocardial sarc... OMIM:612422
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in... OMIM:620570
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections OMIM:253300
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ... OMIM:185500
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspi... ORPHA:1120
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Abnorma... ORPHA:199241
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Increased pulmonary vascular resistance, Elevated right atrial... OMIM:178600
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Abnormal aortic morphology, Anomal... ORPHA:392
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Recurrent respiratory infections, Atrial fibrillation, ... ORPHA:75249
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Dy... OMIM:620067
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Vascular dilatation, Abnormal... ORPHA:99095
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy, Muscula... OMIM:115197
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... ORPHA:3097
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... OMIM:613759
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Meacham Syndrome
Congenital alveolar dysplasia, Transposition of the great arteries, Dextrocardia, Cardiac total a... OMIM:608978
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Systolic heart... OMIM:617478
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Total anomalous pulmonary venous r... ORPHA:494424
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Stroke, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal de... ORPHA:49827
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Abnormal jugular vein morphology, Reduced left ventricular ejecti... ORPHA:1677
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Venou... ORPHA:90308
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary dysplasia, Misalignment of ... OMIM:265380
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu... OMIM:620294
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:619967
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... OMIM:175050
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent viral upper respiratory tract infections OMIM:616898
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis OMIM:618021
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive... OMIM:610655
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
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmona... ORPHA:2847
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Pulmonary sequestration, Patent ductus arteriosus OMIM:618330
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... OMIM:619343
Timothy Syndrome
Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary arteri... OMIM:601005
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Emphysema, Patent ductus arteriosus, Right aortic arch, Recurrent upper ... ORPHA:95430
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Elevated pulmonary artery pressure, Fourth heart sound,... ORPHA:57777
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Telangiectasia ORPHA:101028
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, Interlobular septal thi... OMIM:265120
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep... OMIM:249270
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... ORPHA:401935
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Right atrial en... OMIM:619424
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect, Recurrent lower respiratory tract infections OMIM:617744
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Patent ductus arteriosus, Tachycardia, Atrial septal defect, Ventricular septal defect OMIM:613870
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension OMIM:300887
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, In... OMIM:618280
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary ... OMIM:610205
Oligomeganephronia
Pulmonary venous occlusion, Hypertension, Secundum atrial septal defect, Pulmonary hypoplasia ORPHA:2260
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, ... OMIM:601927
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Noonan Syndrome 8
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ... OMIM:615355
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Atrial septal defe... OMIM:610198
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Cat Eye Syndrome
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo... OMIM:115470
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Atrial septal defect, Ventricular septal defect, Patent duct... ORPHA:290
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Craniofaciofrontodigital Syndrome
Congestive heart failure, Anomalous branches of internal carotid artery, Dilatation of the cerebr... ORPHA:363705
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Recurrent respiratory infections, Patent foramen ovale, Pulmonary artery ... OMIM:618316
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Abnormal aortic morphology, Ventricular septal defect, Tetra... ORPHA:1166
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v... ORPHA:210122
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Bilateral lung agenesis, Hypoplastic left atrium, ... OMIM:601186
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Arteriovenous malformation, Nasal mucosa tela... ORPHA:774
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616867
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Aspiration pneumonia, Tricuspid regu... OMIM:619167
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Pleural effusion, Pericardial effusion, Atrial septal defect, Varic... OMIM:617300
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation OMIM:615476
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Bronchiectasi... OMIM:615067
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Patent ductus arteriosus, Atrial septal defect, Ventricular se... OMIM:615668
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Atelis Syndrome 1
Bronchiectasis, Atrial septal defect, Ventricular septal defect OMIM:620184
Chops Syndrome
Patent foramen ovale, Aspiration pneumonia, Anomalous pulmonary venous return, Patent ductus arte... OMIM:616368
Immunodeficiency 110 With Lymphoproliferation
Recurrent lower respiratory tract infections, Patent foramen ovale, Recurrent sinusitis, Recurren... OMIM:614868
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, Co... OMIM:600987
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Mitral regurgitation OMIM:301039
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Pulmonic stenosis, Recurrent pneumonia, Recurrent sinusitis, Br... OMIM:618282
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aort... ORPHA:3426
Megalencephaly
Atrial septal defect ORPHA:2477
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Secundum atrial septal defect, Pulmonary hypoplasia, Recurrent respir... ORPHA:2257
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract infections, Atri... OMIM:619769
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... ORPHA:477817
Down Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... OMIM:190685
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Tachycardia, Patent foramen ovale, Pericardial effus... ORPHA:26793
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology ORPHA:352490
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Vascular ring OMIM:603387
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p... OMIM:610978
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Transketolase Deficiency
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... ORPHA:488618
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v... OMIM:618494
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Mitral regurgitation ORPHA:88630
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Congenital malformation of the grea... ORPHA:1666
Prune Belly Syndrome
Recurrent respiratory infections, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal de... ORPHA:2970
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... OMIM:620609
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... ORPHA:1842
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Unilateral Polymicrogyria
Stroke, Abnormal heart morphology, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Secundum atrial septal defect, Pu... OMIM:616866
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Atrial septal defect ORPHA:500533
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Atrial septal defect, Coarctation of aorta, Patent ductus arteri... OMIM:614857
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture OMIM:619115
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Recurrent respiratory infe... OMIM:618950
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent... ORPHA:329224
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Atrial septal defect, Ve... OMIM:618870
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return ORPHA:2311
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus a... ORPHA:2519
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Noonan Syndrome 10
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarc... OMIM:616564
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Recurrent pneumonia, Abnormal heart morphology, Patent ductus arteriosus, B... ORPHA:500159
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections, Pulmonary arte... OMIM:616777
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Left-to-right shunt... ORPHA:363444
Meckel Syndrome, Type 7
Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Right ventricular hypertrophy... OMIM:267010
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Recurrent respiratory infecti... ORPHA:7
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Coarctation of aorta, Atrioventricular block, Mitral valve prolapse, Bicuspid aorti... ORPHA:371428
Thanatophoric Dysplasia Type 2
Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:93274
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary hypoplasia, Patent ductus arteriosu... OMIM:608149
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Tetrasomy 15Q26
Atrial septal defect, Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Intracranial hemorrhage,... ORPHA:284227
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia, Patent ductus arteriosus ORPHA:2655
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Tricuspid regurgitation OMIM:615879
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Tatton-Brown-Rahman Syndrome
Supraventricular tachycardia with an accessory connection mediated pathway, Aortic root aneurysm,... ORPHA:404443
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventric... OMIM:612863
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Atrial septal defect OMIM:611961
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Noonan Syndrome 5
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia OMIM:611553
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Atrial septal defect, Aortic aneurysm, Multiple muscular ventricular septal... OMIM:620070
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphol... ORPHA:230851
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... OMIM:620233
16P12.1P12.3 Triplication Syndrome
Tachycardia, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology ORPHA:485405
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Pseudo-Torch Syndrome 2
Bradycardia, Pleural effusion, Secundum atrial septal defect, Cerebral hemorrhage, Patent ductus ... OMIM:617397
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619909
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Ventr... ORPHA:363618
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral regurgitation, Mitral valve prolapse OMIM:615539
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:612582
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Hypertrophic cardiomyopathy OMIM:614582
Desmosterolosis
Anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:35107
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Emanuel Syndrome
Recurrent respiratory infections, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, R... OMIM:609029
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr... OMIM:121050
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:620327
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Mitral stenosis, Hypoplastic left heart OMIM:617660
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart OMIM:619721
Greig Cephalopolysyndactyly Syndrome
Atrial septal defect, Abnormal heart morphology OMIM:175700
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter... OMIM:300963
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac ventricle morphology,... ORPHA:261311
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
3P25.3 Microdeletion Syndrome
Coronary artery atherosclerosis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defec... ORPHA:435638
Trisomy 13
Abnormal lung lobation, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:3378
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect OMIM:614300
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Buratti-Harel Syndrome
Atrial septal defect, Recurrent pneumonia, Dilation of Virchow-Robin spaces OMIM:619314
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Hardikar Syndrome
Hematemesis, Patent ductus arteriosus, Patent foramen ovale, Hypertension, Portal hypertension, P... OMIM:301068
Alagille Syndrome
Hypertension, Telangiectasia of the skin, Atrial septal defect, Ventricular septal defect, Periph... ORPHA:52
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Vascular d... ORPHA:500
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arrhythmia, Atrial septal defect, Ventricular septal defect, Mitral regurgi... ORPHA:254346
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Patent foramen oval... ORPHA:209905
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Peters Plus Syndrome
Abnormal cardiac septum morphology, Abnormal pulmonary vein morphology, Bicuspid pulmonary valve,... ORPHA:709
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Recurrent respiratory infections, Dysplastic pulmonary valve, Ascending... OMIM:601808
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Pentalogy Of Cantrell
Abnormal pericardium morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Atrial septal defect,... ORPHA:1335
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:220500
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Recurrent upper respiratory tract infections, Epistaxis, Patent ductus arte... ORPHA:293939
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:617159
Noonan Syndrome 7
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:613706
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect, Secundum atrial septal defect OMIM:618109
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:208085
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Lymphatic Malformation 13
Patent foramen ovale, Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal de... OMIM:620244
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur ORPHA:2728
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Aortic regurgitation, Coarctation of aorta, Atrial septal defect, Ventric... OMIM:614114
Emanuel Syndrome
Recurrent respiratory infections, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, P... ORPHA:96170
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Acrocardiofacial Syndrome
Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def... ORPHA:2008
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Heart murmur, Atrial septal d... OMIM:158170
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Adams-Oliver Syndrome 1
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Pulmonar... OMIM:100300
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614576
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Right bundle branch block, H... OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Atrial septal defect, Ventricular septal defect, Pulmonary arterial hyperten... OMIM:616449
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:617061
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Recurrent respiratory infections, Recurrent bronchopulmonary infections... OMIM:617303
Noonan Syndrome 4
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:610733
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa... OMIM:605275
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Histiocytosis-Lymphadenopathy Plus Syndrome
Left superior vena cava draining to coronary sinus, Pulmonary arterial hypertension, Pulmonic ste... OMIM:602782
Desmosterolosis
Total anomalous pulmonary venous return, Patent ductus arteriosus OMIM:602398
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:457193
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect OMIM:608776
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections OMIM:620194
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Alazami Syndrome
Atrial septal defect ORPHA:319671
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:609942
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619720
Shashi-Pena Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Patent ductus arteriosus OMIM:617190
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Atrial septal defect, Left-to-right shunt, Left ventricular hypertrophy OMIM:620510
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Carpenter Syndrome 1
Transposition of the great arteries, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteri... OMIM:201000
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal d... OMIM:264480
Thanatophoric Dysplasia Type 1
Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:1860
Mosaic Trisomy 16
Single coronary artery origin, Abnormal lung morphology, Coarctation of aorta, Abnormal heart mor... ORPHA:1708
Recombinant 8 Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V... ORPHA:96167
Distal Triplication 15Q
Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasia, Patent ductus arteriosu... ORPHA:314588
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Aortic root aneurysm, Coarctation of aorta, Atrial septal defect, Ventri... OMIM:617602
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Vascular dilatation, Recurrent respiratory infections, Stroke, Arterial stenosis, Patent ductus a... ORPHA:2637
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ven... ORPHA:457279
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale, Arrhythmia OMIM:619184
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Hepatic arteriovenous malformation, Arteriovenous malformation, Spon... ORPHA:2929
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Aortic aneurysm, A... ORPHA:1600
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:261279
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Hypertension OMIM:619758
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pleural effu... OMIM:235510
Noonan Syndrome 13
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus ORPHA:1790
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Hypertension, Sinus tachycardia, Right bundle branch block, Pulmonary ar... OMIM:614008
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Recurrent respiratory infections, Patent foramen ovale, Hypertrophic ca... ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... OMIM:253800
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Dextrocardia, Abnormal aortic valve morphology ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilation of Virchow-R... OMIM:300998
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arte... OMIM:612562
Bdv Syndrome
Atrial septal defect OMIM:619326
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:244300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus OMIM:620113
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Proximal Spinal Muscular Atrophy
Atrial septal defect, Recurrent aspiration pneumonia, Bradycardia, Recurrent infections due to as... ORPHA:70
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale OMIM:618914
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:487796
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect, Ascending tubular aorta aneurysm OMIM:309520
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent lower respiratory tract infections, Recurrent respiratory infections, Pulmonary arteria... OMIM:612541
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial sep... ORPHA:79345
7Q31 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Atrial septal defect, Recurrent respiratory infections ORPHA:251061
Mosaic Trisomy 9
Abnormal lung lobation, Dextrocardia, Abnormal heart valve morphology, Patent ductus arteriosus, ... ORPHA:99776
Kabuki Syndrome 2
Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect, Coarctation of aorta OMIM:300867
Lymphatic Malformation 6
Intestinal lymphangiectasia, Chylothorax, Pleural effusion, Atrial septal defect, Varicose veins OMIM:616843
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Varicose veins, Arrhythmia, Patent ductus arteriosus ORPHA:33001
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus OMIM:618005
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Epistaxis, Hematochezia ORPHA:96168
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Melena, Abnormal heart morphology, Hematochezia, Intestinal bleeding... ORPHA:79076
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:363528
Scleromyxedema
Stroke, Transient ischemic attack, Abnormal lung morphology, Raynaud phenomenon, Abnormal pulmona... ORPHA:167635
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, P... OMIM:300707
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H... ORPHA:2473
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale, Mitral regurgitation OMIM:225250
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Abnormal vena cava morphology, Pulmonary arterial hypertension, Mitral sten... ORPHA:163956
Fg Syndrome Type 1
Coarctation of aorta, Atrial septal defect, Pulmonary arterial hypertension, Mitral valve prolapse ORPHA:93932
Syndromic Diarrhea
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, B... ORPHA:84064
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy OMIM:619121
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... OMIM:117550
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep... OMIM:614609
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Atrial septal defect, Ve... OMIM:615582
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Partial anomalous pulmonary venous return OMIM:301044
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Emphysema, Dextrocardia, Abnormal heart va... ORPHA:289
Mogs-Cdg
Cardiomegaly, Pulmonary edema, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Koolen-De Vries Syndrome
Aortic root aneurysm, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:610443
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertension, Pleural effusion, Pulmonary arterial hypertension, Spontan... OMIM:606721
Basel-Vanagaite-Smirin-Yosef Syndrome
Left superior vena cava draining to coronary sinus, Pulmonary arterial hypertension, Recurrent pn... ORPHA:464738
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:397709
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypopl... ORPHA:991
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Atrial septal defect ORPHA:1292
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Aortic root aneurysm, Patent foramen ovale, Mitral valve prolapse, Left ve... OMIM:245600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Pseudo-Torch Syndrome 1
Patent foramen ovale, Patent ductus arteriosus OMIM:251290
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... OMIM:613795
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:309801
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ... OMIM:618164
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Atrial septal defect, Ventricular septal defect, Pulmonary arterial hype... OMIM:620663
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Pleural effusion, Abnormal heart... ORPHA:453499
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia, Patent ductus arteriosus OMIM:277380
Ogden Syndrome
Left atrial enlargement, Pulmonary edema, Perimembranous ventricular septal defect, Cardiomegaly,... OMIM:300855
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept... OMIM:619268
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric... OMIM:610759
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect OMIM:620183
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... OMIM:600460
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Pulmonary hypoplasia, Patent ... OMIM:208540
Mucolipidosis Type Ii
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Patent foramen o... ORPHA:576
Opitz Gbbb Syndrome
Aortic root aneurysm, Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Recu... ORPHA:2745
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Recurrent pneumonia OMIM:619179
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:616364
Hoxha-Aliu Syndrome
Atrial septal defect, Perimembranous ventricular septal defect OMIM:620662
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus, Atrial ... ORPHA:163979
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... OMIM:618748
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Absent pulmonary artery OMIM:610682
Cutis Laxa, Autosomal Recessive, Type Iid
Pneumothorax, Congestive heart failure, Ascending tubular aorta aneurysm, Right bundle branch blo... OMIM:617403
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Recurrent pneumonia, Recurrent upper respiratory tract infections, Patent d... OMIM:607143
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Aortic aneurysm, Truncus arteriosus, Atri... ORPHA:261330
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620024
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Vascular dilatation, Patent foramen ovale, Recurrent pneumonia, Pulmonary... OMIM:613177
Fanconi Anemia, Complementation Group F
Pneumonia, Atrial septal defect, Patent ductus arteriosus OMIM:603467
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Pulmonary arterial hypertension, Pulmonary artery hy... OMIM:620025
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Abnormal left ventricular outflow tract morphology,... ORPHA:79328
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary... ORPHA:141127
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Telangiectasia of the skin, Patent ductus arteriosus, V... ORPHA:2092
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Pulmonary artery atresia, Tricuspid regurgitation, Patent ductus arteriosus... OMIM:616894
Distal Deletion 10Q
Atrial septal defect, Patent ductus arteriosus ORPHA:96148
Meier-Gorlin Syndrome 7
Heart block, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect, Complete atri... OMIM:617063
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Recurrent pneumonia, Right ventricular hypertrophy, Partial a... OMIM:150230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Aortic root aneurysm, Patent foramen ovale, Pulmonary arterial hypertension, Recurrent aspiration... ORPHA:280633
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:618223
Oculoectodermal Syndrome
Transient ischemic attack, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arter... OMIM:600268
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS... OMIM:611174
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome