Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... |
ORPHA:1209 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood |
OMIM:256150 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endo... |
ORPHA:60041 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... |
OMIM:618845 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... |
ORPHA:1041 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, C... |
ORPHA:1937 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... |
ORPHA:555874 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pulmonary edema, Transient ischemic attack, Cardiomegaly, Pericardial ef... |
OMIM:115197 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Jaundice, Ventricular septal defect |
OMIM:614876 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defe... |
OMIM:620070 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do... |
ORPHA:3304 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... |
OMIM:239850 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Perching Syndrome |
|
Joint contracture, Cyanosis, Camptodactyly |
OMIM:617055 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Double Outlet Right Ventricle |
|
Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypopla... |
ORPHA:3426 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata |
OMIM:615297 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:618775 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... |
ORPHA:36412 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... |
ORPHA:98913 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion |
OMIM:613885 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Pleural effusion |
ORPHA:79126 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... |
ORPHA:99050 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Abnormal pulmonary vein morphology, Pleur... |
ORPHA:199241 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Jaundice, Dilat... |
ORPHA:26793 |
Aortic Arch Interruption |
|
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... |
ORPHA:2299 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... |
OMIM:616276 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Hypoxemia, Atrial septal... |
ORPHA:439 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... |
OMIM:608978 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Hypoxem... |
ORPHA:2257 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis |
ORPHA:2901 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, P... |
ORPHA:980 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy |
ORPHA:300751 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Abnormal ... |
OMIM:212065 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P... |
ORPHA:90362 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Pulmonary artery atresia, Intrauter... |
OMIM:301056 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion |
OMIM:617822 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong... |
OMIM:618280 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Lambert Syndrome |
|
Intrauterine growth retardation, Jaundice, Ventricular septal defect |
ORPHA:1296 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, I... |
OMIM:619487 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Ascites, Abnormal myocardium morphology, Bruising susceptibility |
ORPHA:77259 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Asbestos Intoxication |
|
Cyanosis, Edema, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion |
ORPHA:2302 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Poems Syndrome |
|
Edema, Pericardial effusion, Acrocyanosis, Pleural effusion, Ascites |
ORPHA:2905 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Cardiomyopathy, Dilated, 2G |
|
Increased Z-disc width, Left atrial enlargement, Myocardial sarcomeric disarray, Cerebral hemorrh... |
OMIM:619897 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopa... |
ORPHA:2326 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... |
OMIM:620067 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... |
ORPHA:335 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul... |
ORPHA:781 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic ... |
ORPHA:1166 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Wolcott-Rallison Syndrome |
|
Jaundice, Dehydration, Atrial septal defect, Double outlet right ventricle, Ascites |
ORPHA:1667 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... |
ORPHA:1913 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:614886 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios |
OMIM:618624 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly |
ORPHA:391428 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Abnormal lymphatic vessel morphology, Ecchymosis, Pleu... |
ORPHA:464329 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Pulmonic s... |
OMIM:615355 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Alg9-Cdg |
|
Torticollis, Ventricular septal defect, Hypoplasia of the musculature, Pericardial effusion, Hydr... |
ORPHA:79328 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Intrauterine growth ... |
ORPHA:284417 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... |
OMIM:607598 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... |
OMIM:601927 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept... |
ORPHA:2516 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragma... |
OMIM:601186 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Acrocyanosis, Camptodactyly of finger |
ORPHA:896 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... |
ORPHA:95430 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Jaundice, Patent ductus arteriosus, Atrial septal defect, Intrauterine... |
ORPHA:290 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Cy... |
ORPHA:99125 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Telangiectasia, Hypoxemia, Pulmonary arteriovenous fistulas,... |
ORPHA:2038 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Abnormal heart morphology |
ORPHA:1867 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena... |
ORPHA:163956 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Vasculitis, Urticaria, Limb hypertonia, Intrauterine growth retardat... |
OMIM:615846 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec... |
OMIM:618142 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr... |
ORPHA:1923 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Cutis marmorata, Abnormal pericardium morphology, Transient ischemic attack, Myocarditi... |
ORPHA:183 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Hennekam Syndrome |
|
Camptodactyly of finger, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, Hydrops fe... |
ORPHA:2136 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j... |
OMIM:613870 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Cutis marmorata |
OMIM:602501 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Medial calcification of large arteries, Transient ischemic att... |
ORPHA:51608 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp... |
ORPHA:1329 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Fetal ascites, Polyhydramnios, Ascending aorta hypoplasia, P... |
ORPHA:141127 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Cutis marmorata |
OMIM:616589 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Cardiomyopathy, Cyanosis |
ORPHA:159 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Chédiak-Higashi Syndrome |
|
Edema, Pericardial effusion, Jaundice, Pleural effusion, Cutaneous photosensitivity, Bruising sus... |
ORPHA:167 |
Aymé-Gripp Syndrome |
|
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca... |
ORPHA:1272 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul... |
OMIM:314390 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... |
ORPHA:99095 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... |
ORPHA:99104 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ... |
OMIM:619909 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Warsaw Breakage Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata |
OMIM:613398 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Jaundice, Oligohydramnios, Dehydration, Atrial septa... |
OMIM:208085 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A... |
ORPHA:98914 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Fucosidosis |
|
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly |
ORPHA:349 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Death in childhood, Intraut... |
OMIM:612938 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... |
ORPHA:2970 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi... |
ORPHA:251071 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema, Myositis |
ORPHA:3165 |
Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... |
ORPHA:397 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins |
OMIM:265120 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... |
OMIM:618223 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... |
OMIM:616897 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... |
OMIM:615668 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... |
ORPHA:1596 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Coarctation ... |
OMIM:618494 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Joint contracture of the hand, Camptodactyl... |
OMIM:280000 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Increase... |
OMIM:617022 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... |
OMIM:606003 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Intrauterine ... |
OMIM:615102 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Vasculitis, Ascendin... |
ORPHA:2331 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:70587 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Meckel Syndrome 14 |
|
Increased nuchal translucency, Cyanosis, Oligohydramnios, Single ventricle |
OMIM:619879 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Jaundice, Arthrogryposis multiplex congenita, Right ... |
OMIM:613404 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:245552 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect, Intrauterine growth ret... |
OMIM:616651 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Peripheral edema, Left ventricul... |
ORPHA:99106 |
Emanuel Syndrome |
|
Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pate... |
OMIM:609029 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Bicuspid ao... |
OMIM:617751 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Contractural Arachnodactyly, Congenital |
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Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Diamond-Blackfan Anemia 7 |
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Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Isolated Klippel-Feil Syndrome |
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Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
3C Syndrome |
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Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:7 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:600001 |
Atelis Syndrome 1 |
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Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Weiss-Kruszka Syndrome |
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Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Ventricular septal defect |
OMIM:214300 |
Phaver Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
Skraban-Deardorff Syndrome |
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Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Holoprosencephaly 13, X-Linked |
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Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Atri... |
OMIM:603387 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Ventricular septal defect |
ORPHA:93267 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Woods Syndrome |
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Ventricular septal defect |
OMIM:615236 |
Restrictive Dermopathy 2 |
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Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Laryngeal Abductor Paralysis |
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Cyanosis |
OMIM:150260 |
Congenital Alveolar Capillary Dysplasia |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Acrocardiofacial Syndrome |
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Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctatio... |
ORPHA:2008 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Death in infancy, Skeletal muscle atrophy, Cyanosis, Ragged-red muscle fibers, Concentric hypertr... |
OMIM:252010 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Atrial septal defect, Intrauterine growth retardation, Pulmonary artery stenosis, Ventricular sep... |
ORPHA:75389 |
Eisenmenger Syndrome |
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Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Aortopulmonary window... |
ORPHA:97214 |
Inverted Duplicated Chromosome 15 Syndrome |
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Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Benign Familial Neonatal Epilepsy |
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Circumoral cyanosis |
ORPHA:1949 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Burn-Mckeown Syndrome |
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Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Isotretinoin-Like Syndrome |
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Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Noonan Syndrome 2 |
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Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Incr... |
OMIM:605275 |
X-Linked Lissencephaly With Abnormal Genitalia |
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Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Donnai-Barrow Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Tarp Syndrome |
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Cyanosis, Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Persistent ... |
ORPHA:2886 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... |
ORPHA:369891 |
Encephalopathy, Ethylmalonic |
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Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion con... |
OMIM:619503 |
Coffin-Siris Syndrome 7 |
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Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Congenital Disorder Of Glycosylation, Type Iil |
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Death in infancy, Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Atrial sept... |
OMIM:614576 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Intrauterine growth retardation, Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Noonan Syndrome 10 |
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Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... |
OMIM:616564 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Noonan Syndrome 9 |
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Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Holoprosencephaly 14 |
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Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Seckel Syndrome 9 |
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Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Pulmonary artery hypo... |
OMIM:616777 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Chiari Malformation Type Ii |
|
Limb muscle weakness, Cyanosis |
OMIM:207950 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Laryngotracheal Angioma |
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Cyanosis |
ORPHA:137935 |
Acquired Methemoglobinemia |
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Hypoxemia, Cyanosis |
ORPHA:464453 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Scapular winging, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterio... |
OMIM:618870 |
Verheij Syndrome |
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Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Aminopterin/Methotrexate Embryofetopathy |
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Ventricular septal defect, Situs inversus totalis, Pulmonary artery atresia, Intrauterine growth ... |
ORPHA:1908 |
Microcephaly-Capillary Malformation Syndrome |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Chromosome 1P36 Deletion Syndrome, Proximal |
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Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Ciliary Dyskinesia, Primary, 30 |
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Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Kagami-Ogata Syndrome |
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Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Flexion con... |
OMIM:608149 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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Atrial septal defect, Intrauterine growth retardation, Flexion contracture, Ventricular septal de... |
OMIM:617452 |
Lymphangioleiomyomatosis |
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Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Acrocyanosis, Joint contracture of the 5th finger |
OMIM:614407 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Camptodactyly |
OMIM:301039 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... |
OMIM:300166 |
Esophageal Atresia |
|
Cyanosis, Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:1199 |
Viss Syndrome |
|
Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Polyhydramn... |
OMIM:619472 |
Emanuel Syndrome |
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Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma... |
ORPHA:96170 |
Pelger-Huet Anomaly |
|
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Coarctation of aorta... |
OMIM:617602 |
Crimean-Congo Hemorrhagic Fever |
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Pericardial effusion, Myocarditis, Jaundice, Subdural hemorrhage, Spontaneous hematomas, Ecchymos... |
ORPHA:99827 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Cerebral arteriovenous malforma... |
OMIM:610655 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra... |
ORPHA:3378 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Transient ischemic attack, Pedal edema, Right ventricular dilatation, Stroke, Abnormal ... |
ORPHA:99103 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Pulmonary edema |
ORPHA:137675 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Limb joint contracture, Ventricular septal... |
ORPHA:505237 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... |
ORPHA:1780 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Gitelman Syndrome |
|
Pericardial effusion, Varicose veins, Rhabdomyolysis |
ORPHA:358 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Interrupted aortic arch, Limb... |
OMIM:616920 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion, Hypoxemia |
OMIM:181000 |
Rere-Related Neurodevelopmental Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
Tetrasomy 5P |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis |
ORPHA:3309 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Unilateral Polymicrogyria |
|
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri... |
ORPHA:1335 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... |
ORPHA:3071 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Intr... |
OMIM:300514 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Ventricular septal defect, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia... |
OMIM:235255 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Atrial septal defect, Intrauterin... |
OMIM:270450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
OMIM:244300 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Sepsis In Premature Infants |
|
Cyanosis, Edema, Jaundice, Petechiae, Purpura |
ORPHA:90051 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... |
OMIM:201000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal death, Death in infancy, Cyanosis, Hypoxemia |
OMIM:610921 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Intrauteri... |
OMIM:611812 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Limb hypertonia |
OMIM:619580 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
19P13.3 Microduplication Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:447980 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:611134 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Intrauterine growt... |
OMIM:620113 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617164 |
Ververi-Brady Syndrome |
|
Intrauterine growth retardation, Transposition of the great arteries |
OMIM:617982 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septum morphology, Aorti... |
ORPHA:96147 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Camptod... |
ORPHA:99776 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:3255 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia |
OMIM:610978 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... |
OMIM:609053 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis, Atrial septal defect... |
OMIM:613001 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... |
OMIM:300963 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Arthrogryposis multiplex congenita, Ventri... |
ORPHA:254346 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... |
OMIM:602782 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia ... |
ORPHA:354 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... |
OMIM:601808 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Intrauterine grow... |
OMIM:617360 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Foam cells, Cyanosis |
ORPHA:747 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Peripheral edema, Ox... |
ORPHA:60025 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Ventricular septal defect, Polyhydramnios, Death in childhood, Intrauterine gro... |
OMIM:243150 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ... |
ORPHA:740 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Edema, Periorbital edema, Myocarditis, Erythema, Vascul... |
ORPHA:221 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Torticollis |
ORPHA:276432 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... |
OMIM:300998 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ... |
OMIM:615582 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
De Barsy Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Progeroid facial appearance, Patent ductus arte... |
ORPHA:2962 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul... |
OMIM:620024 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... |
OMIM:614294 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Coarctation of aorta, Severe intrauterine growth retardation, Subvalvu... |
OMIM:614114 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Patent ductus arte... |
ORPHA:96167 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:166035 |
Alagille Syndrome |
|
Telangiectasia of the skin, Ventricular septal defect, Atrial septal defect, Intrauterine growth ... |
ORPHA:52 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Edema, Polyhydramnios, Patent ductus arteriosus, Neonatal death, Intra... |
OMIM:269860 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... |
OMIM:117550 |
Zellweger Syndrome |
|
Death in infancy, Jaundice, Ventricular septal defect |
ORPHA:912 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... |
OMIM:309520 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... |
OMIM:610443 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Calcification of the aorta,... |
ORPHA:51 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
19Q13.11 Microdeletion Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:217346 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:1692 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus... |
OMIM:130720 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... |
OMIM:178110 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defe... |
OMIM:605039 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... |
ORPHA:261494 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Coarctation of a... |
OMIM:614921 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... |
OMIM:192430 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Coarctation of ao... |
ORPHA:1708 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h... |
OMIM:123700 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:612530 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Pulmonary artery stenosis, Hyp... |
OMIM:100300 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit... |
ORPHA:48435 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Patent ductus arteriosus, Pulm... |
OMIM:610759 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra... |
OMIM:313850 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Yellow subcutaneous tissue c... |
OMIM:256520 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Intrauterine growth retardation, Erythema, Ventricular septal defect, Flexion contracture |
OMIM:614653 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Ventricular septal defect |
OMIM:614424 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Macroglossia, Int... |
ORPHA:96191 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd... |
ORPHA:96201 |
Syndromic Diarrhea |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:84064 |
Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Death in adolescence, Ventricular septal defect, Oligohydramnios |
OMIM:619229 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Prolonged neonatal jaundice, D... |
OMIM:214100 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Joint swelling, Blepharoc... |
ORPHA:287 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pancreatic lymphangiectasis, Pulmonary lymphangiectasi... |
ORPHA:1655 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Ventricular septal defect, Palpebral edema, Jaundice, Death in adolescence, Cam... |
OMIM:614866 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hypoplastic aortic arch, Coa... |
OMIM:617506 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis... |
ORPHA:2092 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aortopulmonary win... |
OMIM:620025 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio... |
ORPHA:769 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
Trichohepatoenteric Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Jaundice, Pulmonic stenosis, Intrauterine growth retar... |
OMIM:222470 |
Kleefstra Syndrome 1 |
|
Macroglossia, Conotruncal defect |
OMIM:610253 |
Chops Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... |
OMIM:616368 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Pulmonary artery stenosis, Increased nuchal translucency, Patent ductu... |
ORPHA:79345 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Intrauterine growth ret... |
ORPHA:261330 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Weakness of facial musculature, Cyanosis, Knee flexion contracture |
OMIM:617239 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect |
ORPHA:251038 |
Ogden Syndrome |
|
Torticollis, Pulmonary edema, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal ... |
OMIM:300855 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... |
ORPHA:2745 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscu... |
OMIM:210710 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Preductal coarctation of the aorta, Neonatal... |
OMIM:146510 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Bruising susceptibility, Ventricular septal defect, Flexion cont... |
OMIM:227645 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Intrau... |
ORPHA:506 |
Primary Hyperoxaluria |
|
Cardiomyopathy, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Camptodactyly, Pulm... |
OMIM:616894 |
C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Myasthenia Gravis |
|
Myositis, Acrocyanosis |
ORPHA:589 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Patent ductus arteriosus, I... |
ORPHA:464311 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... |
ORPHA:488632 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology |
ORPHA:79329 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Atrial septal defec... |
OMIM:300712 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Transposition of the great arteries, Pu... |
ORPHA:3474 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facial palsy, Coarctation o... |
ORPHA:508498 |
Doors Syndrome |
|
Double outlet right ventricle, Polyhydramnios |
ORPHA:79500 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa... |
ORPHA:3380 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypopla... |
OMIM:274000 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Cardiomyopat... |
ORPHA:33364 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... |
OMIM:309801 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
Hyperoxaluria, Primary, Type I |
|
Peripheral arterial stenosis, Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o... |
ORPHA:1507 |
Cohen Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 3rd finger, Ventri... |
ORPHA:464738 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Patent ductus arteri... |
ORPHA:96121 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta... |
ORPHA:444072 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:1465 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation... |
OMIM:618454 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Camptodactyly,... |
OMIM:300373 |
Cerebrocostomandibular Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Death in infancy |
ORPHA:1393 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic ... |
OMIM:608328 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Fryns Syndrome |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of the left hemidiaphragm, Chyloth... |
OMIM:229850 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Intrauterine growth r... |
OMIM:301030 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Macroglossia, Distal arthrog... |
OMIM:618268 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Renal Agenesis |
|
Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Patent ductus arteriosus, Intrauterine gr... |
ORPHA:464306 |
Ulnar-Mammary Syndrome |
|
Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of finger |
ORPHA:3138 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:352665 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Congenital diaphragmatic hernia, Ventri... |
OMIM:618846 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Jacobsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Flexion contracture, Ventricular septal de... |
OMIM:147791 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Polyhydramnios, Retinal arteriola... |
ORPHA:567 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Prolonged neonata... |
OMIM:118450 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Abnormal subcutaneou... |
ORPHA:79318 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Cutis marmorata, Polyhydramnios, Congenital diaphragmatic hernia, Incr... |
ORPHA:818 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly, I... |
OMIM:616145 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Elbow flexion contra... |
OMIM:122470 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Urticaria, ... |
OMIM:154400 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins |
OMIM:617107 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:607721 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... |
ORPHA:1724 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Jacobsen Syndrome |
|
Death in infancy, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Intrau... |
ORPHA:2308 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Weakness of facial musculature, Ventricular septal defect, Prolonged neonatal jaundice |
OMIM:619418 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Stillbirth, In... |
OMIM:236680 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... |
ORPHA:2162 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... |
ORPHA:163979 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... |
ORPHA:363958 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... |
OMIM:613458 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Hardikar Syndrome |
|
Ventricular septal defect, Jaundice, Partial anomalous pulmonary venous return, Patent ductus art... |
OMIM:301068 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup... |
OMIM:164280 |
Larsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morph... |
ORPHA:124 |
Oculodentodigital Dysplasia |
|
Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Death in childh... |
OMIM:309500 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ... |
ORPHA:373 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Atrial septal defect, Dy... |
OMIM:602535 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... |
ORPHA:3047 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... |
ORPHA:97360 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... |
OMIM:616268 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Small thenar eminence, Atria... |
OMIM:105650 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Chylothora... |
OMIM:163950 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Distal 22Q11.2 Microduplication Syndrome |
|
Palpebral edema, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Ma... |
ORPHA:261337 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Frag... |
OMIM:271640 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios |
ORPHA:436252 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Restrictive Dermopathy |
|
Multiple joint contractures, Dextrocardia, Polyhydramnios, Camptodactyly of finger, Patent ductus... |
ORPHA:1662 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Patent fora... |
OMIM:616975 |
8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo... |
ORPHA:508488 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, At... |
ORPHA:904 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Mitral ... |
OMIM:180849 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect, Hydrops fetalis |
OMIM:263520 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect |
OMIM:617063 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo... |
OMIM:608670 |
Limb Body Wall Complex |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... |
ORPHA:2369 |
Degcags Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, P... |
OMIM:619488 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Rhabdomyosarcoma, Achilles tendon contracture, Mitral ... |
OMIM:218040 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Miscarriage, Polyhydramnios, Interphalangeal joint contracture of fing... |
ORPHA:96334 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... |
ORPHA:466791 |
Keutel Syndrome |
|
Miscarriage, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphera... |
OMIM:245150 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A... |
OMIM:117650 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Macroglossia, Aor... |
ORPHA:444077 |
Zttk Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Atrial septal defect, I... |
OMIM:617140 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... |
ORPHA:459070 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Camptoda... |
OMIM:143095 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:353281 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Severe photosensitivity, C... |
OMIM:270400 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal heart morphology, Intrau... |
ORPHA:268261 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis |
ORPHA:955 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Vater/Vacterl Association |
|
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Intraut... |
OMIM:192350 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Ventricular septal defect, Palpebral edema, Bicuspid aortic valve, Jaundice, Dilatat... |
OMIM:619475 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Abnor... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Abnor... |
ORPHA:353277 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... |
ORPHA:3472 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee flexion contracture, Transpo... |
OMIM:614976 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect, Prolonged neonatal jaundice |
OMIM:619525 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Patent ductus arteri... |
OMIM:135900 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Flexion contract... |
OMIM:194050 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... |
ORPHA:438213 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... |
ORPHA:285 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Facial hypotonia, Polyhydramnios, Congenital diaphragmatic hernia, Dia... |
OMIM:312870 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... |
OMIM:235730 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Lower-limb joint contracture, Ventricular septal defect |
ORPHA:513456 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Patent ductus arteriosus, E... |
OMIM:268300 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Anasarca, Severe intra... |
OMIM:243800 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Increased nuchal tra... |
ORPHA:199 |
Digeorge Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,... |
OMIM:188400 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Decreased muscle mass, Ventricular septal ... |
OMIM:194190 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal arthrogryposis,... |
ORPHA:672 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, ... |
ORPHA:821 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st... |
OMIM:261540 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
OMIM:619522 |
Genitopatellar Syndrome |
|
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... |
OMIM:606170 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:147920 |
Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Ventricular septal defect |
OMIM:181450 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic ... |
OMIM:601803 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... |
ORPHA:261552 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio... |
OMIM:164210 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Intrauterine growth r... |
OMIM:216340 |