| 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 circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Tricuspid Atresia |
|
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... |
ORPHA:1209 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Death in childhood, Bone-marrow foam cells |
OMIM:256150 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Death in infancy, Bicuspid aortic valve,... |
OMIM:618845 |
| Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Miscarriage, Pleural... |
ORPHA:1041 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Ri... |
OMIM:231060 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, ... |
ORPHA:860 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Intrauter... |
ORPHA:1937 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis |
ORPHA:2414 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Patent foramen ovale, Cardiomegaly, Pericardial effusion, Hypoxemia, Abnormal tricuspid... |
ORPHA:555874 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita |
OMIM:615731 |
| Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Anomalous branches of internal carotid artery, Palmopla... |
ORPHA:363705 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch... |
OMIM:115197 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Ventricular septal defect, Death in infancy |
OMIM:614876 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
| Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... |
ORPHA:185 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... |
OMIM:616749 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
| Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Limb hypertonia, Death in infancy, Pericardial effusion, Aortic aneurysm, Atrial ... |
OMIM:620070 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology |
OMIM:608776 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect, Tetralog... |
ORPHA:3304 |
| Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
| Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Atrial septal defe... |
ORPHA:1354 |
| Double Outlet Right Ventricle |
|
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctati... |
ORPHA:3426 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... |
OMIM:613759 |
| Perching Syndrome |
|
Cyanosis, Joint contracture, Camptodactyly |
OMIM:617055 |
| Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid... |
ORPHA:1461 |
| 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, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Cutis marmorata, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... |
ORPHA:231111 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... |
OMIM:249670 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupted aortic arc... |
OMIM:617478 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Truncus Arteriosus |
|
Cyanosis, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted a... |
ORPHA:3384 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema, Pericardial effusion, Macroglossia, Pleural effusion, Hypertrophic car... |
OMIM:261740 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
| Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup... |
OMIM:618775 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Abnormal he... |
ORPHA:36412 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps we... |
ORPHA:98913 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Atrioventricular canal defect, Subvalvular aortic stenosis, Polyhydramnios, Right atria... |
OMIM:306955 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion |
OMIM:613885 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aort... |
ORPHA:99050 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Pleural effusion, Peripheral edema |
ORPHA:79126 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Aortic Arch Interruption |
|
Cyanosis, Double outlet right ventricle, Aortic valve atresia, Patent ductus arteriosus, Pedal ed... |
ORPHA:2299 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pedal edema, Pulmonary edema, Pericardial effusion, Hypoxemia, Pleural effusion, Abnorm... |
ORPHA:199241 |
| Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:2515 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical ori... |
OMIM:212093 |
| Meacham Syndrome |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Atrial septal defect, Aplasia of th... |
OMIM:608978 |
| Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Lymphedema, Pericardial effusion, Thyro... |
OMIM:235510 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect |
OMIM:616816 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Patent foramen ovale, Pedal edema, Hypoxemia, Atrial septal defect, Muscular ventricula... |
ORPHA:439 |
| Primary Pulmonary Hypoplasia |
|
Cyanosis, Secundum atrial septal defect, Hypoxemia, Dextrocardia, Abnormal pulmonary artery morph... |
ORPHA:2257 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
| Congenital Enterovirus Infection |
|
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascites, Myocardit... |
ORPHA:292 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis |
ORPHA:2901 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Oligohydram... |
OMIM:617021 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Patent foramen ovale, Hypocapnia, Patent ductus arteriosus, Pedal edema, Truncus arteri... |
ORPHA:980 |
| Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Ascites, Abnormal lym... |
ORPHA:90362 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology, Muscular dystrophy |
ORPHA:300751 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... |
ORPHA:244 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Pericardial effusion, Death i... |
OMIM:212065 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
| Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Double outlet right ventricle, Ventricular septal defect, Arthrogryposis multiple... |
OMIM:301056 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Camptodactyly, Pleural effusion, Edema, Arthrogryposis multiplex congenita |
OMIM:617822 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
| Lambert Syndrome |
|
Jaundice, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1296 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615996 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Left ventricular hypertrophy, Pericarditis, Edema, Ascites, Intrauterine gr... |
OMIM:619487 |
| Gaucher Disease Type 1 |
|
Pedal edema, Pericardial effusion, Bruising susceptibility, Ascites, Abnormal myocardium morphology |
ORPHA:77259 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Patent duct... |
OMIM:270100 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:615524 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Myositis, Edema, Pleural effusion, Ascites |
ORPHA:93552 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... |
OMIM:614262 |
| Poems Syndrome |
|
Pericardial effusion, Acrocyanosis, Pleural effusion, Edema, Ascites |
ORPHA:2905 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect, Death in infancy |
OMIM:613730 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
| Asbestos Intoxication |
|
Cyanosis, Hypoxemia, Myocardial fibrosis, Oxygen desaturation on exertion, Edema, Cor pulmonale |
ORPHA:2302 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
ORPHA:2209 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Cerebral hemorrhage, Myocardial sarcomeric disarray, Dilated cardiomyopathy, I... |
OMIM:619897 |
| Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Ano... |
ORPHA:2326 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:444013 |
| Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Death in infancy |
OMIM:616277 |
| Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... |
OMIM:620067 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
| Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Left ventricular hypertrophy, Bruising susceptibility, Right v... |
ORPHA:335 |
| Q Fever |
|
Endocarditis, Pericardial effusion, Purpura, Pericarditis, Pleural effusion, Myocarditis, Abnorma... |
ORPHA:781 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
| Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy of Fallot, Ventricular sep... |
ORPHA:1166 |
| Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... |
OMIM:612946 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... |
OMIM:614954 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Jaundice, Atrial septal defect, Dehydration, Ascites |
ORPHA:1667 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Transposition of the great ... |
ORPHA:1913 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... |
ORPHA:2847 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... |
OMIM:618164 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow trac... |
ORPHA:216694 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Death in infancy, Pericardial effusion, Pleural effusion, Anasarca, Ascites |
OMIM:618183 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
| Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... |
ORPHA:1457 |
| Noonan Syndrome 12 |
|
Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Epidural hemorrhage, Bruising susceptibility, Ecchymosis, Pleural effusion,... |
ORPHA:464329 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
| Noonan Syndrome 8 |
|
Patent ductus arteriosus, Polyhydramnios, Palmoplantar cutis laxa, Ventricular septal defect, Lef... |
OMIM:615355 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
| Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Stillbirth |
OMIM:263630 |
| Alg9-Cdg |
|
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... |
ORPHA:79328 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
| Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... |
OMIM:601005 |
| Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Skeletal muscle atrophy... |
OMIM:607598 |
| 46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
| Atrioventricular septal defect 3 |
|
Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de... |
OMIM:600309 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
| Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
| Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... |
ORPHA:3092 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Ventricular septal defect, Muscle fiber atrophy, Type... |
OMIM:619542 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Knee flexion contracture, Cyanotic episode, Limb joint contracture, Ankle flexion contracture, In... |
ORPHA:284417 |
| Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Bruis... |
ORPHA:536532 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Intrauterine growth retardation, Truncus arteriosus, Ventricular sept... |
ORPHA:2516 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Congenital Tracheomalacia |
|
Cyanosis, Patent ductus arteriosus, Ventricular septal defect, Single ventricle, Atrial septal de... |
ORPHA:95430 |
| Down Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... |
OMIM:190685 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Acrocyanosis, Atrial septal defect |
ORPHA:896 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... |
ORPHA:401935 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... |
OMIM:601927 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:2772 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Jaundice, Atrial septal defect, Intrauterine... |
ORPHA:290 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Double outlet right ventricle, Mitral atresia, Patent ductus arteriosus, Ventricular se... |
ORPHA:99125 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Gaucher Disease Type 3 |
|
Hydrops fetalis, Pericardial effusion, Abnormal heart valve morphology, Aortic valve calcificatio... |
ORPHA:77261 |
| Myhre Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Camptodactyly, Atrial ... |
OMIM:139210 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Abnormal heart morphology |
ORPHA:1867 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Telangiectasia, Bacterial endocarditis, Pleural empyema, Ischemic stroke, Transient isc... |
ORPHA:2038 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Aicardi-Goutieres Syndrome 7 |
|
Limb hypertonia, Pericardial effusion, Vasculitis, Oligohydramnios, Hypertrophic cardiomyopathy, ... |
OMIM:615846 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
| Methimazole Embryofetopathy |
|
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Intr... |
ORPHA:1923 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
ORPHA:163956 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Vasculitis, Acrocyanosi... |
ORPHA:183 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic right heart, Atrial septal defec... |
OMIM:618142 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum a... |
ORPHA:1329 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Cutis marmorata, Ventricular septal defect |
OMIM:602501 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... |
OMIM:613870 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Hydrops fetalis, Lymphedema, Pericardial effusion, Arteriovenous malform... |
ORPHA:2136 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Ventricular hypertrophy, Polyhydramnios, Hydrops fetalis, Arterial calcification, Abnor... |
ORPHA:51608 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Polyhydramnios, Patent ductus arteriosus, Anomalous origin of left pulmonary artery fro... |
ORPHA:141127 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, Cardiomyopathy |
OMIM:249270 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Death in infancy, Jaundice, Atrial septal defect... |
OMIM:208085 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
| Adams-Oliver Syndrome 6 |
|
Cutis marmorata, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect, Death in infancy |
OMIM:147800 |
| Rare Circulatory System Disease |
|
Cyanosis, Arterial calcification, Elbow flexion contracture, Abnormal systemic arterial morpholog... |
ORPHA:98028 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Rhabdomyolysis, Cardiomyopathy |
ORPHA:159 |
| Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Pericardial effusion, Camptodactyly, Pericarditis, Congenital diaphragm... |
ORPHA:1272 |
| Chédiak-Higashi Syndrome |
|
Cutaneous photosensitivity, Pericardial effusion, Jaundice, Bruising susceptibility, Pleural effu... |
ORPHA:167 |
| Filippi Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation |
OMIM:272440 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Polyhydramnios, Dextrocardia, Persistent left superior vena cava, ... |
OMIM:314390 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Desbuquois Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... |
ORPHA:1425 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... |
OMIM:601186 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Right ventricular dilatation, Unroofed coronary sinus, Transient ischemic attack, Anoma... |
ORPHA:99104 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... |
ORPHA:1926 |
| Congenital Gerbode Defect |
|
Pedal edema, Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembrano... |
ORPHA:99095 |
| Prune Belly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Aplas... |
ORPHA:2970 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Cutis marmorata, Ventricular septal defect |
OMIM:613398 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata, Hypertrophic cardiomyopathy... |
OMIM:612938 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnor... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnor... |
ORPHA:98914 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
| 8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... |
ORPHA:251071 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
| Fucosidosis |
|
Vascular skin abnormality, Cardiomegaly, Decreased muscle mass, Acrocyanosis |
ORPHA:349 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia, Secundum atrial septal defe... |
OMIM:619909 |
| Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Pericarditis, Aortic dissection, Double outlet right ventricle with su... |
ORPHA:397 |
| Eosinophilic Fasciitis |
|
Myositis, Edema, Muscular edema, Acrocyanosis |
ORPHA:3165 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Neonatal death, Misalignment of the pulmonary veins, Death in infancy |
OMIM:265120 |
| Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... |
OMIM:249420 |
| Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614815 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
| Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial... |
OMIM:606003 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Flexion contracture, Hydrops fetalis, Ventricular septal defect, Pleural effusion... |
OMIM:616897 |
| Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:49041 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Death in infancy, Jaundice, Arthrogryposis multiplex congenita, Right ... |
OMIM:613404 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hydrops fetalis, Ventricular septal defect, Torti... |
OMIM:617022 |
| Serkal Syndrome |
|
Pulmonic stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios |
ORPHA:139466 |
| Tyshchenko Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation,... |
OMIM:615102 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... |
OMIM:618223 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia |
OMIM:617450 |
| Meckel Syndrome 14 |
|
Cyanosis, Single ventricle, Increased nuchal translucency, Oligohydramnios |
OMIM:619879 |
| Distal Monosomy 15Q |
|
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... |
ORPHA:1596 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Coarctati... |
OMIM:618494 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Intrauterine growth ret... |
OMIM:616651 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Polyhydramnios |
ORPHA:254534 |
| Lambotte Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation |
OMIM:245552 |
| Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Vasculitis, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice, Cardiomyopathy |
OMIM:225750 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia, Pulmonary edema |
ORPHA:70587 |
| Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
| Developmental And Epileptic Encephalopathy 66 |
|
Dextrocardia, Ventricular septal defect, Atrial septal defect |
OMIM:618067 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left ventricular hypertrophy, Pulmonary artery dilatation, Left atrial enlargement, Per... |
ORPHA:99106 |
| Contractural Arachnodactyly, Congenital |
|
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... |
OMIM:121050 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:500159 |
| Kawasaki Disease |
|
Palmoplantar erythema, Ascending tubular aorta aneurysm, Jaundice, Double outlet right ventricle ... |
ORPHA:2331 |
| Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, Ventricular septal defect, Elbow contracture, Contracture of the proxim... |
OMIM:617201 |
| 3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death... |
ORPHA:7 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Torticollis, Atrial sept... |
OMIM:609029 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
| Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Secundum atrial septal defec... |
OMIM:612562 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth r... |
OMIM:617751 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect, Intrauterine growth retardation |
OMIM:617635 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... |
ORPHA:1727 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect |
OMIM:614261 |
| Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Camptodactyly, Ventricular septal defect, Atrial septal defect |
OMIM:300963 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Ventricular septal defect |
ORPHA:2256 |
| Phaver Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch... |
ORPHA:2876 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Nonimmune hydrops fetalis, Pulmonary artery dilata... |
OMIM:265380 |
| Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Vascular ring, Atrial septal defect, Skeleta... |
OMIM:603387 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Death in infancy, Mitral ... |
ORPHA:2008 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Intrauterine growth retardation |
OMIM:619793 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Bicuspid aortic valve, Oligohydr... |
OMIM:618027 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Intrauterine growth r... |
ORPHA:75389 |
| Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... |
ORPHA:210122 |
| Eisenmenger Syndrome |
|
Cyanosis, Atrioventricular canal defect, Patent ductus arteriosus, Bacterial endocarditis, Pedal ... |
ORPHA:97214 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Ventricular septal defect, Joint contracture of the hand |
OMIM:113000 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Death in infancy |
ORPHA:452 |
| Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Abnormal coronary artery... |
OMIM:605275 |
| Tarp Syndrome |
|
Cyanosis, Atrial septal defect, Persistent left superior vena cava, Tetralogy of Fallot, Intraute... |
ORPHA:2886 |
| Burn-Mckeown Syndrome |
|
Hypomimic face, Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Cerebral edema, Concentric hypertrophic cardiomyopathy, Death in infancy, Increased int... |
OMIM:252010 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Peau d'orange, Ventricular septal defect, Death in infancy, Atrial sept... |
OMIM:614576 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in childhood, Ventricular septal defect, Death in infancy |
OMIM:616901 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
| Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... |
ORPHA:2306 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:79243 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries, Macroglossia |
OMIM:616789 |
| Noonan Syndrome 10 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosis, Mi... |
OMIM:616564 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Lower limb hypertonia |
OMIM:619995 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Seckel Syndrome 9 |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia, Con... |
OMIM:616777 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Pulmonary artery atresia, Tetralogy of Fallot,... |
ORPHA:1908 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Ascending aorta hypoplasia, Re... |
OMIM:619503 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Camptodactyly, Macroglossia, Abnormal heart morp... |
ORPHA:369891 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Chiari Malformation Type Ii |
|
Cyanosis, Limb muscle weakness |
OMIM:207950 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:329224 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Diastasis recti, Flexion contracture, Ventricular septa... |
OMIM:608149 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618870 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
| Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia |
ORPHA:464453 |
| Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Microphthalmia, Syndromic 2 |
|
Patent ductus arteriosus, Double outlet right ventricle, Flexion contracture, Ventricular septal ... |
OMIM:300166 |
| Viss Syndrome |
|
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, C... |
OMIM:619472 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... |
OMIM:600987 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Camptodactyly, Ventricular septal defect, Atrial septal defect |
OMIM:301039 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flexion contracture, Ventricular septal defect, Atrial septal defect, Intrauterine growth retarda... |
OMIM:617452 |
| Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia |
OMIM:169400 |
| Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger |
OMIM:614407 |
| Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect, Facial palsy |
OMIM:147770 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Camptodactyly, Ventricular septal defect |
OMIM:619980 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Hypoxemia |
ORPHA:1302 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Multiple joint contractu... |
ORPHA:96170 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Cooper-Jabs Syndrome |
|
