Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:615779 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Conotruncal Heart Malformations |
|
Transposition of the great arteries, Double outlet right ventricle, Complete atrioventricular can... |
OMIM:217095 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Partial atrioventricular canal defect, Primum atrial septal defect |
OMIM:619608 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete... |
OMIM:613854 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De... |
OMIM:613751 |
Atrioventricular septal defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... |
OMIM:208530 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Cardiomyopathy, Dilated, 2D |
|
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... |
OMIM:619371 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect |
OMIM:615272 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
Congenital Myopathy 11 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:619967 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology |
OMIM:105805 |
White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Li-Campeau Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:614676 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... |
ORPHA:1354 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ... |
OMIM:619702 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Mitral atresia, Hypoplastic left heart, Atrial septal defect |
ORPHA:2248 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ... |
OMIM:619343 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... |
ORPHA:3092 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic valve steno... |
OMIM:614980 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral stenosis, Mi... |
OMIM:212093 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet... |
OMIM:306955 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:619149 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect |
OMIM:614261 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale |
OMIM:616867 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy |
ORPHA:88630 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Aortic Valve Disease 2 |
|
Aortic valve stenosis, Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve |
OMIM:614823 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Dextrocardi... |
OMIM:264480 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect |
ORPHA:89844 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Even-Plus Syndrome |
|
Patent foramen ovale, Atrial septal defect |
OMIM:616854 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Abnormal heart morphology, Atrial septal defect |
OMIM:614954 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect |
OMIM:615996 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum morphology |
OMIM:615009 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect |
ORPHA:500159 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame... |
OMIM:615474 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... |
ORPHA:261243 |
Down Syndrome |
|
Atrioventricular canal defect, Double outlet right ventricle, Patent foramen ovale, Ventricular s... |
OMIM:190685 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Parachute mitral ... |
OMIM:618316 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... |
ORPHA:1461 |
Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:618950 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect |
OMIM:618027 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, Atrial septal defect |
OMIM:610883 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
ORPHA:329224 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Death in childhood, Ventricular septal defect |
OMIM:613759 |
Transketolase Deficiency |
|
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect |
ORPHA:488618 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Adams-Oliver Syndrome 5 |
|
Pulmonic stenosis, Patent foramen ovale, Right atrial enlargement, Right ventricular hypertrophy |
OMIM:616028 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect |
OMIM:618494 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Death in infancy, Spina bifida, Bicuspid... |
ORPHA:1120 |
Cardiac Diverticulum |
|
Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe... |
ORPHA:1686 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect |
OMIM:208085 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:614961 |
Transaldolase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:606003 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Situs inversus totalis, Unbalanced atrioventricular canal defect, ... |
OMIM:618300 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect |
ORPHA:369891 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:609053 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:618870 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect |
OMIM:231060 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Laubry-Pezzi Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Subarterial ventricular septal defect, Perimembr... |
ORPHA:99094 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Atrial septal defect |
OMIM:620075 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy |
OMIM:616866 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
Hamamy Syndrome |
|
Complete atrioventricular canal defect, Atrial septal defect |
OMIM:611174 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Noonan Syndrome 3 |
|
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp... |
OMIM:609942 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Mitral Valve Prolapse 1 |
|
Mitral valve prolapse |
OMIM:157700 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Insulin-Like Growth Factor I, Resistance To |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:270450 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... |
ORPHA:457279 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Hypertension, Ventricular septal defect, Arrhythmia |
OMIM:617021 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:613355 |
Meier-Gorlin Syndrome 7 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:617063 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Mitral valve prolapse, Hypertrophic cardiomyopathy, Complete atriove... |
OMIM:151100 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect |
OMIM:618782 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... |
ORPHA:216694 |
Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
OMIM:612946 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Patent foramen ovale |
OMIM:602613 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale |
ORPHA:293939 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... |
OMIM:600001 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Pulmonic stenosis, Abnormal heart valve morphology |
ORPHA:228410 |
Congenital Alveolar Capillary Dysplasia |
|
Atrioventricular canal defect, Pulmonary valve atresia, Ventricular septal defect, Bicuspid aorti... |
ORPHA:210122 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Patent foramen ovale, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618748 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Patent foramen ovale |
OMIM:607143 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:619184 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventricular canal defect, Ve... |
OMIM:619534 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
Pseudo-Torch Syndrome 1 |
|
Patent foramen ovale |
OMIM:251290 |
Cardiac Valvular Dysplasia, X-Linked |
|
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale |
OMIM:619179 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal d... |
ORPHA:508488 |
Zaki Syndrome |
|
Patent foramen ovale |
OMIM:619648 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:401935 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect |
OMIM:617364 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
OMIM:249270 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Mesocardia, ... |
OMIM:605376 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:620113 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... |
ORPHA:1913 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Ebstein anomaly of the tricuspid... |
ORPHA:1880 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect |
OMIM:126320 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Tetralogy of Fallot, Complete atrioventricular canal defect |
OMIM:617925 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... |
ORPHA:99050 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
Transaldolase Deficiency |
|
Biventricular hypertrophy, Atrial septal defect |
ORPHA:101028 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... |
ORPHA:2299 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of pericardium, Atrial sept... |
ORPHA:2847 |
Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum mo... |
ORPHA:209905 |
Mass Syndrome |
|
Mitral valve prolapse |
OMIM:604308 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... |
ORPHA:1457 |
Chops Syndrome |
|
Patent foramen ovale, Anomalous pulmonary venous return, Ventricular septal defect |
OMIM:616368 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy |
OMIM:619492 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1166 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid valve, Atrial septal defec... |
ORPHA:2255 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613870 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... |
OMIM:249420 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
OMIM:241310 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Temple-Baraitser Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:611816 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
White-Sutton Syndrome |
|
Patent foramen ovale, Atrial septal defect |
OMIM:616364 |
Scimitar Syndrome |
|
Truncus arteriosus, Heart block, Double outlet right ventricle, Ventricular septal defect, Atrial... |
ORPHA:185 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse |
OMIM:616166 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Anencephaly, Arrhinencephaly, Complete atrioventricular canal defect, ... |
OMIM:236680 |
Loeys-Dietz Syndrome 5 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:615582 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Valvular pulmonary stenosis |
OMIM:300707 |
Fibrochondrogenesis 1 |
|
Patent foramen ovale |
OMIM:228520 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Patent foramen ovale, Pulmonary valve atresia, Ventricular septal ... |
OMIM:265380 |
Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi... |
OMIM:615355 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, ... |
ORPHA:163956 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:619657 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Death in childhood, Ventricular septal defect, Cardiac ... |
OMIM:608978 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent foramen ovale |
OMIM:618076 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Umbilical hernia, Large placenta |
ORPHA:254534 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:613457 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:179613 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Sweeney-Cox Syndrome |
|
Patent foramen ovale |
OMIM:617746 |
Tyshchenko Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615102 |
3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... |
ORPHA:7 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Atrial ... |
OMIM:601927 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Death in childh... |
OMIM:612938 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Abnormal mitral valve morphology, Bundle branch block, Mitral valv... |
ORPHA:500 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Patent foramen ovale, Ventricular septal defect |
OMIM:616894 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Common atrium |
OMIM:619143 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Patent foramen ovale, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:617506 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:300963 |
White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect |
ORPHA:1035 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... |
ORPHA:251071 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia |
OMIM:619769 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Subaortic ventricular septal bulge, Left ventricular hypertrophy, At... |
OMIM:612098 |
Alg12-Cdg |
|
Patent foramen ovale, Biventricular hypertrophy, Muscular ventricular septal defect |
ORPHA:79324 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse |
OMIM:173900 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect |
OMIM:618142 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Ventricular ... |
ORPHA:290 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Atrial septal defect |
OMIM:619268 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse |
OMIM:606631 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Umbilical hernia |
OMIM:617751 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent foramen ovale, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy |
OMIM:610505 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Spinal dysraphism, Ventricular septal defect, Abnormality of the pulm... |
ORPHA:1926 |
Developmental And Epileptic Encephalopathy 66 |
|
Dextrocardia, Ventricular septal defect, Atrial septal defect |
OMIM:618067 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse |
OMIM:225320 |
Cardiospondylocarpofacial Syndrome |
|
Mitral valve prolapse |
ORPHA:3238 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Atrial septal defect, Patent foramen ovale |
ORPHA:505248 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect |
OMIM:617660 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... |
ORPHA:3426 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect |
OMIM:615502 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Opitz Gbbb Syndrome |
|
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect |
ORPHA:2745 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
Alagille Syndrome 2 |
|
Tetralogy of Fallot, Pulmonic stenosis, Atrial septal defect |
OMIM:610205 |
Short-Rib Thoracic Dysplasia 12 |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:269860 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... |
OMIM:600987 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Noncompaction cardiomyopathy, Atrial septal defect |
OMIM:610198 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Atrial septal defect |
ORPHA:352490 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:618454 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Mitral stenos... |
OMIM:605275 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:611134 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale |
OMIM:617557 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:75389 |
Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Atrioventricular canal defect, Right atrial isomerism, Ascending tubula... |
OMIM:270100 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
Marfanoid Habitus With Situs Inversus |
|
Mitral valve prolapse, Situs inversus totalis, Pulmonic stenosis |
OMIM:609008 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupt... |
OMIM:617478 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Dilated cardiomyopathy |
OMIM:145350 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
Mucolipidosis Type Ii |
|
Patent foramen ovale, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Left ve... |
ORPHA:576 |
Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo... |
ORPHA:2876 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent foramen ovale |
ORPHA:457395 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... |
ORPHA:97214 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect |
OMIM:613792 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Atrial septal defect |
OMIM:301039 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... |
OMIM:157800 |
Methimazole Embryofetopathy |
|
Ventricular septal defect |
ORPHA:1923 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation, Coarctation of aorta |
OMIM:618929 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Dextrocardia, Transposition of the great arteries |
OMIM:314390 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Persistent fetal circulation, Ventricu... |
ORPHA:363705 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Mitral valve prolapse, Atrial septal defect, Dysplastic tricuspid valve, Dysplastic pulmonary val... |
OMIM:612863 |
Snijders Blok-Campeau Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect |
OMIM:618205 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:603387 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp... |
ORPHA:363700 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:613884 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Situs inve... |
ORPHA:1908 |
Zechi-Ceide Syndrome |
|
Abnormal heart morphology, Atrial septal defect |
ORPHA:217017 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ... |
OMIM:616564 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent foramen ovale, Right ventricular hypertrophy, Atrial septal defect |
ORPHA:280633 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Ebstein anomaly of the tricuspid valve, Left ven... |
ORPHA:466791 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect |
ORPHA:896 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Atrioventricular canal defect |
ORPHA:2549 |
Prader-Willi Syndrome Due To Translocation |
|
Patent foramen ovale, Abnormal heart morphology |
ORPHA:177907 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Death in infancy |
ORPHA:452 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Right ventricular hypertrophy |
OMIM:613177 |
Khan-Khan-Katsanis Syndrome |
|
Patent foramen ovale |
OMIM:618460 |
Fragile X Syndrome |
|
Mitral valve prolapse |
ORPHA:908 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Overriding aorta, Pulmo... |
ORPHA:3304 |
Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve |
OMIM:617137 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:230839 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Mitral regurgitation, Umbilical hernia, Tricuspi... |
OMIM:615879 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:616975 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
ORPHA:17 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:2143 |
Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... |
OMIM:300855 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent foramen ovale, Atrial septal defect |
OMIM:620005 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Patent foramen ovale |
OMIM:618653 |
Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect |
OMIM:619135 |
Sick Sinus Syndrome 2 |
|
Mitral valve prolapse, Left ventricular hypertrophy, Left ventricular noncompaction |
OMIM:163800 |
Prune Belly Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect |
ORPHA:2970 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect |
OMIM:121050 |
Meacham Syndrome |
|
Conotruncal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Anom... |
ORPHA:3097 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent foramen ovale |
OMIM:300990 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale |
ORPHA:477993 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect |
OMIM:218350 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:2519 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect |
OMIM:619721 |
Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Patent foramen ovale, Left ventricular hypertrophy, Mitral valve calcification |
OMIM:619127 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Cardiomegaly, Truncus arteriosus, Anomalous origin of one pulmonary art... |
ORPHA:3384 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Atrial septal defect |
ORPHA:1842 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect |
OMIM:147770 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... |
OMIM:601186 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:618282 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Mitral valve prolapse |
OMIM:247410 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:611553 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Mitral valve prolapse, Atrial septal defect |
OMIM:300986 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3071 |
Frank-Ter Haar Syndrome |
|
Mitral valve prolapse |
ORPHA:137834 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect |
ORPHA:444077 |
Hardikar Syndrome |
|
Partial anomalous pulmonary venous return, Patent foramen ovale, Ventricular septal defect, Atria... |
OMIM:301068 |
Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... |
OMIM:601808 |
Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect |
ORPHA:90308 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Mitral valve prolapse |
OMIM:193400 |
Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Right ventricular hypertrophy |
ORPHA:324604 |
Cranioectodermal Dysplasia 2 |
|
Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect |
OMIM:613610 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Atrial septal defect, Multiple muscular ventricular septal defects |
OMIM:620070 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:115470 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Mitral valve prolapse, Quadricuspid aortic valve |
OMIM:606408 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Rubinstein-Taybi Syndrome 1 |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Mitral... |
OMIM:180849 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1488 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... |
ORPHA:1727 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Distal Monosomy 12Q |
|
Patent foramen ovale, Congenital hypertrophy of left ventricle |
ORPHA:96149 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Branchial anomaly, Ventricular s... |
ORPHA:453499 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Umbilical hernia |
OMIM:169400 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Boudin-Mortier Syndrome |
|
Mitral valve prolapse |
OMIM:619543 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal de... |
ORPHA:1335 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Death in infancy, Mitral stenosis, Atrial septal d... |
ORPHA:2008 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ... |
ORPHA:1708 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Perimembrano... |
ORPHA:363444 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta |
ORPHA:2409 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Mitral valve prolapse |
ORPHA:2848 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Patent foramen ovale |
ORPHA:391487 |
Thanatophoric Dysplasia |
|
Atrial septal defect |
ORPHA:2655 |
Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Coarctation of aorta |
OMIM:300867 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect |
ORPHA:93274 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Bartsocas-Papas Syndrome 1 |
|
Patent foramen ovale |
OMIM:263650 |
Stevenson-Carey Syndrome |
|
Atrial septal defect |
OMIM:611961 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Atrial septal defect |
OMIM:617452 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Ventricular septal defect, Atrial sept... |
OMIM:608149 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Intracranial... |
ORPHA:369929 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:610733 |
Degcags Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic pulmonary valve... |
OMIM:619488 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Cardiomegaly, Aortic valve calcification, Mitral valve calcification |
OMIM:231005 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... |
ORPHA:438213 |
Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Situs inversus totalis, Right ventricular hypertrophy, Atrial septal defect |
OMIM:267010 |
Tetraamelia Syndrome 2 |
|