Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft palate, Micrognathia, Ventricular septal defect, Transpositi... |
OMIM:231060 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
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Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Pulmonary Atresia With Ventricular Septal Defect |
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Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short humerus, Isomerism,... |
OMIM:314390 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Micrognathia, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1913 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... |
ORPHA:244 |
Diabetic Embryopathy |
|
Cleft palate, Micrognathia, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal ... |
ORPHA:1926 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Pierre Robin Syndrome |
|
Glossoptosis, Cor pulmonale, Micrognathia, Cleft palate |
OMIM:261800 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricula... |
OMIM:306955 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... |
OMIM:220210 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... |
ORPHA:3426 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:270100 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1727 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Pulmonic stenosis, 11 pairs of ribs, Anterior open-bite malocclusion, Tra... |
OMIM:617877 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Micrognathia... |
ORPHA:3304 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... |
OMIM:619910 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Chronic sinusitis, Recurrent pneumonia, B... |
OMIM:613807 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Malar flattening, Tetralogy of Fallot, Mandibular prognathia, A... |
ORPHA:1919 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Malar flattening, Pulmonic stenosis, Microgn... |
OMIM:179613 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... |
ORPHA:251071 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale, Macroglossia |
OMIM:616789 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Arteria lusoria, Mitral valve prola... |
OMIM:212093 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... |
OMIM:600001 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, High palate |
OMIM:619995 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Micrognathia, Trismus, Abnormal heart morphology |
OMIM:218450 |
Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Persistence of primary teeth, Aplasia/Hypoplasia of the middle... |
OMIM:201000 |
Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Ventricular septal defect, Transpos... |
ORPHA:1780 |
Ververi-Brady Syndrome |
|
High palate, Transposition of the great arteries |
OMIM:617982 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy |
OMIM:614676 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Patent duc... |
ORPHA:1880 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Thoracoabdominal Syndrome |
|
Cleft palate, Ectopia cordis, Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of th... |
OMIM:313850 |
Cat-Eye Syndrome (Type I) |
|
Anal atresia, Micrognathia, Abnormal heart morphology |
DECIPHER:42 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... |
ORPHA:2255 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Short ribs, Intestinal malrotation, Short tibia, Micromelia, Hepatic cysts, Situs i... |
ORPHA:1505 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Micrognathia, Coarctation of ... |
ORPHA:2209 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Prominence of the premaxilla... |
OMIM:614886 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... |
OMIM:613426 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Conotruncal defect, Cleft palate |
OMIM:243440 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pu... |
ORPHA:1166 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Tetralogy of Fallot,... |
OMIM:612561 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Fetal Encasement Syndrome |
|
Lower limb undergrowth, Upper limb undergrowth, Tetralogy of Fallot |
OMIM:613630 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Morphologi... |
ORPHA:2847 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
Down Syndrome |
|
Double outlet right ventricle, Anal atresia, Short palm, Atrial septal defect, Macroglossia, Atri... |
OMIM:190685 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Renpenning Syndrome |
|
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy, Malar flattening, Mandibular prognathia |
ORPHA:3242 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus... |
OMIM:612863 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... |
OMIM:217085 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Tetralogy of Fallot |
ORPHA:276422 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... |
ORPHA:2326 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:3033 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Truncus arteriosus |
OMIM:228940 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Abnormal lung lo... |
ORPHA:2516 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... |
OMIM:611878 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Short sternum, Abnormal heart morphology |
OMIM:184800 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... |
ORPHA:1667 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Hepatomegaly, Pulmonic stenosis, Retrognathia, Pulmonary artery at... |
OMIM:301056 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic pulmonary v... |
OMIM:618021 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... |
OMIM:612946 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... |
ORPHA:1666 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Atrial septal defect, Gastroesophageal reflux, Atrioventricular canal defect, Micro... |
OMIM:600123 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Chime Syndrome |
|
Pulmonary valve atresia, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the toes, Cl... |
ORPHA:3474 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Tetralogy of Fallot |
ORPHA:1381 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... |
OMIM:619343 |
Facial Dysmorphism With Multiple Malformations |
|
Anal atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries... |
OMIM:227255 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... |
OMIM:253800 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Anteriorly placed anus, 11 pairs of ribs, Tetralogy of Fallot |
OMIM:618624 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Cleft palate, Tetralogy of Fallot, Ventricular septal defec... |
OMIM:280000 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... |
OMIM:301043 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Cat Eye Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... |
OMIM:115470 |
Hypoglossia With Situs Inversus |
|
High palate, Micrognathia, Situs inversus totalis, Microglossia, Polysplenia, Asplenia |
OMIM:612776 |
Autosomal Recessive Amelia |
|
Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower limbs, Amelia, Amelia in... |
ORPHA:1027 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Complete atrioventricular canal defect, Hypoplasia of the maxilla, Atrioventric... |
OMIM:619142 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... |
OMIM:265380 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... |
OMIM:618280 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
46,Xx Sex Reversal 5 |
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Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Loeffler Endocarditis |
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Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Malar flattening, Micrognathia, Aglossia, Patent ductus arteriosus, Hypopla... |
OMIM:241310 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Pulmonic stenos... |
OMIM:618223 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip a... |
ORPHA:2001 |
Aminopterin/Methotrexate Embryofetopathy |
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Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... |
ORPHA:1908 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... |
OMIM:610205 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:2184 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... |
ORPHA:2306 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Situs inversus totalis, Dextrocardia, Chronic sinusitis, Abdominal situs inversus |
OMIM:619607 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Giant Cell Arteritis |
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Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Atrioventricular canal defect, Aplasia/hypoplasia involving bon... |
ORPHA:40366 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
Distal Monosomy 19P13.3 |
|
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia |
ORPHA:96129 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Noonan Syndrome 3 |
|
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... |
OMIM:609942 |
Restrictive Dermopathy |
|
Temporomandibular joint ankylosis, Atrial septal defect, Aplasia/Hypoplasia of the clavicles, Mic... |
ORPHA:1662 |
Prune Belly Syndrome |
|
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Tetralogy of Fall... |
ORPHA:2970 |
Orofaciodigital Syndrome Xvii |
|
Retrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Tetralogy of Fallot |
OMIM:617926 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short sternum, Hepatoblastoma, Cleft palate, Hepatomegaly, Ventricular septal defect, Mandibular ... |
OMIM:312870 |
Neu-Laxova Syndrome 1 |
|
Cleft palate, Micrognathia, Micromelia, Ventricular septal defect, Limb undergrowth, Pulmonary hy... |
OMIM:256520 |
German Syndrome |
|
High palate, Abnormal cardiac septum morphology, Micrognathia, Tetralogy of Fallot, Dysphagia |
ORPHA:2077 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Cleft palate, Short ribs, Micrognathia, Short tibia, Esophageal diverticulum, Tetra... |
OMIM:617925 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... |
OMIM:601186 |
X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Tetralogy o... |
ORPHA:163956 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
Vater/Vacterl Association |
|
Anal atresia, Hypoplasia of the radius, Tracheoesophageal fistula, Tetralogy of Fallot, Short thu... |
OMIM:192350 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Cardiac Valvular Dysplasia, X-Linked |
|
Mitral valve prolapse, Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Sho... |
OMIM:314400 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Duodenal atresia, Interrupted inferior vena cava with azygous continua... |
OMIM:618846 |
Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
3C Syndrome |
|
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... |
ORPHA:7 |
Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, High palate, Dental malocclusion, Atrial septal defect, Secundum a... |
OMIM:249420 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:617021 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Exocrine pancreatic insufficiency, Micrognathia, Ventricular septal defect, Patent... |
ORPHA:452 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2476 |
Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Double outlet right ventricle with doubly co... |
ORPHA:1596 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy |
OMIM:249270 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:2412 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Viss Syndrome |
|
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... |
OMIM:619472 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, 11 pairs of ribs, Coarctation of aorta, Ve... |
OMIM:264480 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:619189 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Tricuspid valve prolapse, Patent ductus arteriosus, Atrioventricular canal defect |
ORPHA:276413 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Micrognathia, Ventricular septal defect, Pulmonary hypoplasia, Overri... |
OMIM:617022 |
Cardiofacioneurodevelopmental Syndrome |
|
Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, Micrognathia, Abdominal situs inv... |
OMIM:619123 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis |
ORPHA:3449 |
Carpenter Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Atrial septal defect, High, narrow palate, Retro... |
OMIM:614976 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Cleft palate, Micrognathia, Situs inversus totalis, Aglossia, Pulm... |
OMIM:202650 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Tetralogy of Fallot, Ventric... |
ORPHA:1335 |
Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Atrial septal defect, Cleft palate, Aplasia/Hypoplasia of the patella,... |
OMIM:617063 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613458 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Muscular ventricular septal defect, Delayed eruption of teeth, Cholestasis, Ventricu... |
OMIM:619503 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Patent ductus arteriosus, Abnormal tricus... |
ORPHA:90308 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Short distal phalanx of finger, Arteriovenous malformation, ... |
ORPHA:974 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Persistence of primary teeth, Macroglossia, Malar flattening, Protruding... |
OMIM:610253 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve |
ORPHA:1724 |
Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... |
OMIM:609008 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... |
ORPHA:99094 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Cleft palate, Aortic valve atresia, Double outlet right ventricle |
OMIM:619895 |
Ivic Syndrome |
|
Anal atresia, Short clavicles, Absent thumb, Short femur, Intestinal malrotation, Hypoplasia of t... |
OMIM:147750 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Tetralogy of Fallot |
ORPHA:2328 |
Congenital Tracheomalacia |
|
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Recurrent up... |
ORPHA:95430 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Stroke, Atrial septal defect |
ORPHA:49827 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:616277 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Aplasia/hypopla... |
ORPHA:3320 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Eruption failure, Micrognathia, Complete atrioventricular canal defect, Unilateral r... |
ORPHA:476126 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Aortic ro... |
ORPHA:284979 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect |
OMIM:207620 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, High palate, Tetralogy of Fallot |
OMIM:613398 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... |
ORPHA:980 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Ve... |
OMIM:617159 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose ... |
OMIM:153400 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, ... |
OMIM:300166 |
Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... |
ORPHA:2059 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis |
ORPHA:95459 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Hypoplasia of the ulna, Doubl... |
OMIM:214800 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... |
ORPHA:2396 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Retrognathia... |
OMIM:192430 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defect,... |
ORPHA:96167 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Malar flattening, Retrognathia, Micrognathia, Pyloric stenosis, Rectal p... |
OMIM:613177 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Pate... |
OMIM:612562 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
Tarp Syndrome |
|
High palate, Short sternum, Cleft palate, Glossoptosis, Hypoplasia of the radius, Micrognathia, T... |
OMIM:311900 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... |
OMIM:615355 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent foram... |
OMIM:157800 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Atrial septal defect, Hepatoblastoma... |
ORPHA:84064 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:613870 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis |
OMIM:248950 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Hamamy Syndrome |
|
High palate, Dental malocclusion, Atrial septal defect, Short 2nd finger, Micrognathia, Enamel hy... |
OMIM:611174 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Bifid tongue, Bifid uvula, Tetralogy of Fallot, Enamel ... |
ORPHA:2919 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:608406 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft palate, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... |
OMIM:600460 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Retrognathia, Micrognathia, Abnormality of dental eruption, Tetralogy of Fal... |
ORPHA:96092 |
Mckusick-Kaufman Syndrome |
|
High palate, Ectopic anus, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft pala... |
ORPHA:2473 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
ORPHA:255241 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventric... |
OMIM:618748 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Marfan Syndrome |
|
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Mitral valve prola... |
OMIM:154700 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Micrognathia, Short middle... |
ORPHA:391641 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the esoph... |
OMIM:609192 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defect |
OMIM:618142 |
Orofaciodigital Syndrome V |
|
High palate, Cleft palate, Bifid tongue, Bifid uvula, Tetralogy of Fallot, Lobulated tongue, Vent... |
OMIM:174300 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Mitral valve prolapse, Mitral stenosis, Aortic valve stenosis |
OMIM:614185 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261337 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Left ventricular hypertrophy, Abnormal left ... |
ORPHA:466791 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Anal atresia, Atrial septal defect, Cleft palate, Coarctation of aorta, Tetralog... |
ORPHA:2008 |
Esophageal Atresia |
|
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... |
ORPHA:1199 |
Acrofacial Dysostosis 1, Nager Type |
|
Short toe, Velopharyngeal insufficiency, Cleft palate, Absent thumb, Hypoplasia of the radius, Re... |
OMIM:154400 |
Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... |
ORPHA:488618 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
ORPHA:290 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Angioosteohypertrophic Syndrome |
|
Tricuspid valve prolapse, Peripheral arteriovenous fistula, Venous insufficiency |
ORPHA:2346 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... |
ORPHA:363705 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse |
ORPHA:1101 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... |
ORPHA:500159 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse, Patent ductus arteriosus, Atrial septal defect |
OMIM:618371 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta |
OMIM:616145 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal heart morphology |
ORPHA:485405 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... |
ORPHA:96147 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:607598 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:613457 |
Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:300963 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
OMIM:609029 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Whim Syndrome |
|
Sinusitis, Recurrent upper respiratory tract infections, Tetralogy of Fallot, Abnormality of the ... |
ORPHA:51636 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
Doors Syndrome |
|
Double outlet right ventricle, High palate, Short distal phalanx of finger, Narrow palate, Gastro... |
ORPHA:79500 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
ORPHA:3306 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:329224 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:615102 |
Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Coarctati... |
OMIM:616564 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Nonc... |
OMIM:607872 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:617751 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Mitral valve prolapse, Dilated card... |
ORPHA:2556 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Exocrine pancreatic insufficiency, Gastritis, Recurrent bronchopulmonary infections, Cor pulmonal... |
OMIM:219721 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:218350 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect |
ORPHA:75389 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Loeys-Dietz Syndrome 2 |
|
Cleft palate, Pulmonary artery aneurysm, Aortic root aneurysm, Spontaneous pneumothorax, Retrogna... |
OMIM:610168 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Tricuspid valve prolapse, Mitral valve prolapse, Atrial septal defect |
OMIM:601776 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect |
OMIM:619909 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:619769 |
Transaldolase Deficiency |
|
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:606003 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Exocrine pancreatic insuffi... |
OMIM:118450 |
Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctat... |
OMIM:605275 |
Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia |
ORPHA:2876 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis |
ORPHA:85202 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus |
OMIM:147770 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
Knobloch Syndrome 2 |
|
Micrognathia, Abnormal pulmonary interstitial morphology, Pyloric stenosis, Enamel hypoplasia, Pa... |
OMIM:618458 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:613680 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale |
OMIM:618027 |
Braddock-Carey Syndrome 1 |
|
Ventricular septal defect, Aortic valve prolapse |
OMIM:619980 |
Classical Ehlers-Danlos Syndrome |
|
Tricuspid valve prolapse, Arterial dissection, Arteriovenous fistula, Mitral valve prolapse, Dila... |
ORPHA:287 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Atrial septal defect, Aortic root aneurysm |
OMIM:301039 |
Roifman Syndrome |
|
Ventricular septal defect, Noncompaction cardiomyopathy |
OMIM:616651 |
Neurocardiofaciodigital Syndrome |
|
High palate, Double inlet left ventricle, Atrial septal defect, Retrognathia, Tetralogy of Fallot... |
OMIM:619869 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the radius, Tetralogy of Fallot, Hypoplasia of the ulna, Phocomelia, Absent gallbla... |
ORPHA:3186 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitral valve prolapse, Pa... |
OMIM:121050 |
Atrioventricular Septal Defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618950 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Hydrolethalus Syndrome 1 |
|
Cleft palate, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb undergrowth,... |
OMIM:236680 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Gastroesophageal reflux, Supernumerary tooth, Hepatomegaly, Splenomegaly, Micrognathia, Elevated ... |
OMIM:619525 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Persistent left superior vena cava, Hypertrophic cardiomyopathy, Peric... |
OMIM:618775 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Cor... |
ORPHA:435638 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:618870 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Char Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:46627 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:616730 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
ORPHA:2519 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Ebstein anomaly of the tricuspid valve |
ORPHA:506358 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:608149 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
ORPHA:3378 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Cleft... |
OMIM:100300 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3071 |
Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... |
ORPHA:96170 |
8Q24.3 Microdeletion Syndrome |
|
Exocrine pancreatic insufficiency, Atrioventricular canal defect, Micromelia, Ventricular septal ... |
ORPHA:508488 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:612938 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614576 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... |
OMIM:601808 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:615879 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... |
ORPHA:192 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular septal defect, Ventricular hypertrophy, Intracranial hemorrhage |
ORPHA:369929 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis |
OMIM:231050 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:611134 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:609053 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Atrial septal defect |
OMIM:617452 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:610733 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atr... |
OMIM:613001 |
Phace Syndrome |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Coarctation of aorta, Tet... |
ORPHA:42775 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:270450 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:617061 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abn... |
ORPHA:457279 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:616897 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:220500 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
ORPHA:457193 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cleft palate, Tetralogy of Fallot, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Apl... |
ORPHA:306542 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:77298 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:52055 |
Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:505237 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia |
OMIM:616777 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta |
OMIM:617602 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Ventricular septal defect, Atrial septal defect, Coarctation of aorta |
OMIM:105650 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:447980 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:618348 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve pr... |
OMIM:175050 |
Ogden Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis |
ORPHA:276432 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Left superior vena cava draining to coronary sinus, Vent... |
OMIM:602782 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:300514 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:244300 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, At... |
OMIM:158170 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Aortic root aneurysm |
OMIM:145420 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100077 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Secundum atrial sept... |
OMIM:142900 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Aortic root aneurysm |
ORPHA:96201 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Tetralogy of Fallot, Ventricular septa... |
ORPHA:1507 |
Gm1 Gangliosidosis |
|
Cherry red spot of the macula, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopath... |
ORPHA:354 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Abnormal vena cava morphology |
ORPHA:166035 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Pulmonic stenosis, Ventricular septal... |
OMIM:143095 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:254346 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pulm... |
ORPHA:261494 |
Trisomy 1Q |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261344 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... |
ORPHA:99776 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Ascending tubular aorta aneurysm, Atrial septal defect |
OMIM:309520 |
Sotos Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Muscular ventricular s... |
OMIM:117550 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pe... |
ORPHA:26793 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:106260 |
Ellis Van Creveld Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... |
ORPHA:289 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Atrial septal defect |
OMIM:617360 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Coarctation of aorta |
OMIM:614114 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Dilation of Virchow-R... |
OMIM:300998 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Pleural lymphangiectasia, Ventricular septal defect, Pericardial effusion, ... |
OMIM:235510 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Thyroid lymph... |
OMIM:235255 |
Chops Syndrome |
|
Ventricular septal defect, Anomalous pulmonary venous return, Patent ductus arteriosus, Patent fo... |
OMIM:616368 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Atrial septal defect |
OMIM:610536 |
Mucopolysaccharidosis Type 2 |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Peripheral arterial stenos... |
ORPHA:580 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:300472 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Atrial septal defect |
OMIM:610978 |
Trichothiodystrophy 4, Nonphotosensitive |
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Ventricular septal defect |
OMIM:234050 |
Alagille Syndrome |
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Ventricular septal defect, Peripheral pulmonary artery stenosis, Atrial septal defect |
ORPHA:52 |
Chromosome 15Q25 Deletion Syndrome |
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