Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Cardiogenic s... |
OMIM:619371 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotroph... |
OMIM:253300 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Congenital Gerbode Defect |
|
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... |
ORPHA:99095 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... |
OMIM:115197 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Pulmonary edema, Atrial fibrillation, Left atrial enlargement, Tricuspid regurgitation... |
ORPHA:75249 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Death in infancy, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlarg... |
OMIM:619424 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardiomegaly, Perica... |
ORPHA:555874 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... |
OMIM:612422 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Lipedema |
|
Edema |
OMIM:614103 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... |
OMIM:618254 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Edema, Hypertension, Intrauterine growth retardation, Thrombocytop... |
OMIM:189800 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... |
OMIM:614473 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Right atrial enlargement, Pulmonary arterial hypertension, Pulmonic st... |
OMIM:616028 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophi... |
OMIM:616277 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal rib morphology, Abnor... |
ORPHA:1354 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... |
ORPHA:100093 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat... |
OMIM:614034 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
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 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac septum morphology, Intrauter... |
ORPHA:1937 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Mitral valve prolap... |
OMIM:620233 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Increas... |
OMIM:185070 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat... |
ORPHA:563 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep... |
ORPHA:1909 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... |
ORPHA:555877 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Respiratory insufficiency, Arthrogryposis multiplex co... |
OMIM:615731 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle... |
OMIM:618414 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Card... |
ORPHA:171433 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Polyhydramnios, Flexion contracture, Respiratory failure, Myofibr... |
OMIM:615348 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Asbestos Intoxication |
|
Reduced vital capacity, Edema, Right ventricular failure, Reduced forced vital capacity, Nonprodu... |
ORPHA:2302 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ... |
OMIM:616867 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva... |
OMIM:614480 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Coug... |
ORPHA:185 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Dyspnea, Flexion contracture, Thin ribs, Ri... |
OMIM:614008 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Growth delay, Decreased 3-hy... |
OMIM:231530 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Increased pulmonary vascular re... |
ORPHA:70591 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropen... |
OMIM:603552 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Missing ribs, Double outlet right ventricle, Hypoplastic l... |
OMIM:220210 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Telangiectasia, Biventricular hypertrophy, Ci... |
ORPHA:101028 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Int... |
ORPHA:858 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia |
ORPHA:100025 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decreased ac... |
OMIM:607616 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic sten... |
OMIM:249670 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... |
ORPHA:163596 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart ... |
ORPHA:1194 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Ventricular septal defect, Dilated cardiomyopathy, Clinodactyly of the 5th finger, In... |
ORPHA:2515 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Hypertrophic cardiomyopathy, Respiratory failure, Nocturnal hypoventilation, Intrauterin... |
OMIM:620326 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Hypothyroidism, Anemia |
ORPHA:1195 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... |
ORPHA:295 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambiguous, Productive co... |
ORPHA:244 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Abnormal heart morphology, Respiratory... |
OMIM:276950 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough |
OMIM:263000 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... |
ORPHA:79301 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... |
OMIM:243150 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Clinodactyly of the 5th... |
OMIM:179613 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers, Polyhydramnios |
OMIM:616794 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... |
ORPHA:699 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Elevated circula... |
OMIM:214900 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Proportionate short ... |
ORPHA:71212 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Abnormal EKG, Respiratory insufficiency due to mu... |
OMIM:310200 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... |
ORPHA:860 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:620010 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Mirage Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Patent ductus ... |
OMIM:617053 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, R... |
OMIM:201475 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip... |
ORPHA:392 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic i... |
OMIM:617895 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... |
OMIM:278000 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure, Hypoplasia of the capital femoral... |
OMIM:600561 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia... |
ORPHA:3032 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Increa... |
OMIM:619334 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Pro... |
ORPHA:398124 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Reduced level... |
OMIM:224120 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Dyspnea, Effort-indu... |
ORPHA:3282 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Hypogonadism, Poikil... |
OMIM:615234 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... |
ORPHA:90117 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... |
ORPHA:1388 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Ventricular septal defect, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... |
OMIM:612541 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Polyhydramnios, Respiratory failure |
OMIM:225753 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr... |
OMIM:610333 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Respiratory insufficiency due to muscle weakness, Fa... |
OMIM:611890 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:619868 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Preeclampsia |
|
Elevated hepatic transaminase, Polycystic ovaries, Elevated diastolic blood pressure, Hypertensio... |
ORPHA:275555 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Short stature, Bicuspid aortic valve, I... |
ORPHA:84064 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... |
OMIM:617021 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fin... |
ORPHA:3304 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Long fingers, Paten... |
OMIM:618316 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Cryptorchidism, Jaundice, Abnorma... |
OMIM:214110 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Pate... |
OMIM:606003 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites,... |
ORPHA:75233 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Ragged-red mus... |
ORPHA:352447 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, C... |
ORPHA:3426 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia |
ORPHA:3319 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Polyhydramnios, Proximal placement of thumb, Tetralo... |
OMIM:618624 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, My... |
ORPHA:210136 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thrombo... |
ORPHA:2123 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 toe syndactyl... |
ORPHA:477817 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... |
OMIM:252011 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure |
OMIM:619386 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera... |
OMIM:256810 |
Hyperekplexia 4 |
|
Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, Umbilical hernia,... |
OMIM:618011 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, Hy... |
ORPHA:70472 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... |
ORPHA:79094 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Abnorm... |
ORPHA:26791 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Dehydration, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Throm... |
ORPHA:79312 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ascites, Short stature |
OMIM:602361 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Cardiomyopathy, Cirrhosis, Neutrope... |
OMIM:604250 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Respiratory failure, ... |
ORPHA:158687 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Short stature, Ventricular septal defect, Splenomegaly, Jaund... |
ORPHA:290 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Mmep Syndrome |
|
Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... |
ORPHA:132 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Abnormal heart morphology |
ORPHA:79327 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Severe short stature, Short stature, Truncus arteriosus, Ventricular septal... |
OMIM:601186 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m... |
OMIM:609628 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotranspositi... |
OMIM:306955 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Autosomal Erythropoietic Protoporphyria |
|
Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Dehydration |
ORPHA:28 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... |
OMIM:608647 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus ... |
OMIM:619657 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... |
OMIM:616816 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Anemia, Perimembranou... |
OMIM:608104 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... |
ORPHA:1120 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien... |
OMIM:313420 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... |
ORPHA:70 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Hypertrophic car... |
OMIM:613561 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Myopathy, Stillbirth, Deat... |
OMIM:614922 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Abnormal cardiac septu... |
OMIM:601612 |
Ciliary Dyskinesia, Primary, 30 |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... |
OMIM:616037 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Flexion cont... |
ORPHA:171430 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Respiratory failure, Perimembranous ventr... |
OMIM:618804 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal myocardiu... |
ORPHA:77259 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Rhabdomyolysis, Intracranial he... |
ORPHA:449285 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Congenital hip dislocation, ... |
OMIM:618291 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of ... |
ORPHA:436252 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... |
OMIM:263630 |
Acute Interstitial Pneumonia |
|
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... |
ORPHA:79126 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Edema, Polyhydramnios, Flex... |
ORPHA:98905 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal a... |
ORPHA:1166 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Glycogen Storage Disease Iv |
|
Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Ascites, Cardiom... |
OMIM:232500 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Situs inversus totalis |
OMIM:618948 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Dehydration, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, T... |
ORPHA:27 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, ... |
ORPHA:371428 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia |
OMIM:236750 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... |
ORPHA:308552 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver ... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Nonimmune hydrops fetalis, Decreased liver function, Neonat... |
OMIM:618835 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral... |
ORPHA:83473 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Short stature, Microcytic anemia, Hypothyroidism, Hepatosplenomega... |
OMIM:619013 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... |
ORPHA:254534 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocy... |
ORPHA:158029 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Rhabdoid Tumor |
|
Lymphadenopathy, Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Clinodactyly, Patent ductus arteriosus, Double out... |
OMIM:618164 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Edema, Hepatosp... |
OMIM:619644 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... |
OMIM:616501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Jaundice, Hepatitis, Hepatic n... |
ORPHA:90062 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Respiratory in... |
OMIM:609015 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Growth dela... |
ORPHA:369 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia |
OMIM:613101 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Microcytic anemia, Pulmonary embolism, Congesti... |
ORPHA:90308 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... |
ORPHA:1414 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Coxa valga, P... |
OMIM:301056 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... |
ORPHA:54251 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Respiratory insufficiency, Vascular granular osmiophilic material deposition, ... |
OMIM:610127 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Splenomegaly, Ascites, Anemia, Oligohydramnios |
ORPHA:1046 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra... |
OMIM:618805 |
Glycogen Storage Disease Vi |
|
Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic ... |
OMIM:232700 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary i... |
OMIM:602088 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Lymphangiectasia, Intestinal |
|
Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Pulmonary embolism, Growth delay, Iron deficiency anemia, Budd-Chiari syndro... |
OMIM:226300 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Tracheal Agenesis |
|
Polyhydramnios, Abnormal cardiac septum morphology, Respiratory insufficiency |
ORPHA:3346 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Toe syndactyly, Ventricular septal defect, Toe clinodactyly |
ORPHA:261120 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda... |
ORPHA:3342 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosple... |
ORPHA:300298 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Short thumb, Patent ductus ar... |
OMIM:612561 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... |
OMIM:620393 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal heart morpho... |
ORPHA:2209 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Restrictive ventilato... |
ORPHA:99931 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
Cinca Syndrome |
|
Eosinophilia, Lymphedema, Leukocytosis, Hepatosplenomegaly, Growth delay, Lymphadenopathy, Anemia |
OMIM:607115 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Congenital diaph... |
ORPHA:1488 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... |
OMIM:245400 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... |
ORPHA:232 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Lower... |
ORPHA:2590 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Abnormal rib ... |
ORPHA:2772 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly |
OMIM:620296 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Abnormal respiratory system physiolog... |
ORPHA:449280 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... |
ORPHA:367 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... |
ORPHA:1461 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Increased circulating lactate ... |
ORPHA:71275 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Rhabdomyolysis, Respiratory... |
ORPHA:746 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... |
OMIM:604320 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hepatic failure, Cholelithiasis, Edema |
OMIM:177000 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios,... |
OMIM:616897 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm, Clinodactyly ... |
OMIM:616652 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arterios... |
OMIM:601005 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Down-... |
OMIM:606071 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve ste... |
ORPHA:3449 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Intrauterine growth retardation, Cys... |
OMIM:613861 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Polyhydramnios, Flexion contracture, 2-3 toe syndactyly, Respiratory insu... |
OMIM:618186 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... |
ORPHA:980 |
Glycogen Storage Disease Ixa1 |
|
Growth delay, Splenomegaly, Elevated hepatic transaminase, Hepatomegaly |
OMIM:306000 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... |
OMIM:620249 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:2584 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Intr... |
OMIM:620327 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Growth delay, ... |
ORPHA:263501 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis, Anemia |
OMIM:617408 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... |
OMIM:613489 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Polyhydramnios, Missing ribs, Dyspnea, Abnormal rib morphol... |
ORPHA:2759 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Brachydactyly, Ventricular septal defect, Short thumb, Abnormal heart morphology, Atrial septal d... |
ORPHA:401935 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Polyhydramnios, Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, ... |
OMIM:615330 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... |
OMIM:619057 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Atrial septal defect, Ventricular sept... |
OMIM:614576 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... |
OMIM:235555 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteri... |
ORPHA:2519 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... |
OMIM:614742 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... |
OMIM:617478 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short... |
OMIM:611881 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, P... |
OMIM:619189 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Abnormal rib mo... |
ORPHA:93267 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Cardiomegaly, Tape... |
OMIM:608836 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Situs inversus totalis |
OMIM:612776 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Growth delay, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy... |
OMIM:617022 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger |
OMIM:601355 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... |
ORPHA:40366 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Neonatal insul... |
ORPHA:1667 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Short stature, Cardiomyopat... |
OMIM:232400 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... |
ORPHA:2847 |
Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Aplasia/Hypoplasia of the abdomin... |
ORPHA:1425 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Cerebral hemorrhage, Abnormality... |
OMIM:620278 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Cerebellar hemorrhage, Dehydration, Anemia, Cardiomyop... |
OMIM:606054 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... |
ORPHA:454836 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... |
OMIM:617300 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Polyhydramnios, Oligohydramnios |
ORPHA:3033 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspira... |
ORPHA:2020 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Thrombocytopenia, Dilated cardio... |
OMIM:611126 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abno... |
ORPHA:39041 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flexion contrac... |
OMIM:613870 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... |
OMIM:608978 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp... |
ORPHA:2256 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin... |
OMIM:618974 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Mele... |
ORPHA:98870 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ... |
ORPHA:525731 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Pulmo... |
OMIM:300887 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100075 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Recurrent intrapulmonary hemorrhage, Epistaxis,... |
ORPHA:906 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Down Syndrome |
|
Short palm, Ventricular septal defect, Sandal gap, Short middle phalanx of the 5th finger, Comple... |
OMIM:190685 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Abnormal rib morphology... |
ORPHA:2345 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Neonatal respiratory distress, Ventricular septal defect, Monkey wrench femoral... |
OMIM:618870 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:94066 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... |
ORPHA:1913 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormal rib morphology |
ORPHA:276422 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Short... |
OMIM:616651 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebr... |
ORPHA:363705 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... |
OMIM:619487 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxi... |
OMIM:618142 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... |
ORPHA:258 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, Conc... |
OMIM:610505 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Foot oligoda... |
OMIM:616589 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Short stature, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural k... |
OMIM:616050 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... |
ORPHA:67 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated c... |
OMIM:615895 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... |
ORPHA:227990 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... |
OMIM:220110 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Howell-Jolly bodies, Abnormal cardiac ve... |
ORPHA:85443 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Congestive heart failure, Myocarditis, Lymp... |
ORPHA:3386 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal circulating enzyme concentration or activity, Anemia, Megaloblasti... |
ORPHA:51208 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short foot |
ORPHA:228399 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Split hand, Vascular granular osmiophilic material depositi... |
ORPHA:168486 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy, Gro... |
ORPHA:1451 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Pericardial effusion, Short toe, Genera... |
OMIM:139210 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... |
ORPHA:365 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Patent ductus arteriosus, Abnormal rib mor... |
ORPHA:2970 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Abnormal vena cava morpholo... |
ORPHA:163956 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Ascites |
ORPHA:890 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anem... |
ORPHA:91547 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Intrauterine growth retardation, Truncus a... |
ORPHA:2516 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... |
OMIM:265120 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... |
OMIM:614815 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... |
ORPHA:400 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:614886 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation |
OMIM:619083 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, H... |
ORPHA:178320 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Diffus... |
OMIM:170100 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Increased mean platelet volume, ... |
ORPHA:182050 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Coxa valga, Long fingers, Patent duct... |
OMIM:608149 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... |
ORPHA:100078 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... |
OMIM:619909 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Vasculitis, Delayed puberty, Anemia |
ORPHA:575 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr... |
ORPHA:1923 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Spi... |
ORPHA:2137 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Polyhydramnios, Abnormal heart valve morphology, Aspleni... |
ORPHA:99776 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Edema, Splenomegaly, Jaundice, Hepatos... |
OMIM:603553 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... |
ORPHA:2254 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular resistance, N... |
ORPHA:60025 |
Filippi Syndrome |
|
Ventricular septal defect, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Intraut... |
OMIM:272440 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Respiratory failure, Muscular dystrophy, Hydrops fetalis |
ORPHA:88618 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Dehydration, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia |
ORPHA:33355 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, ... |
ORPHA:254528 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Hand pol... |
OMIM:314390 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Periorbital edema, Splenomegaly, Lymphadenopathy, An... |
OMIM:617591 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality... |
ORPHA:464329 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Sandal gap, Paroxysmal supraventricular tachycardia, Short toe, Perimembranous ... |
OMIM:617877 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Short stature, Edema, Fluctuating s... |
OMIM:610377 |
Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hypertension, Pleural effusion, Ascites, Anemia |
OMIM:603278 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Flexion contracture, Abnormal aortic arch morphology, Tibial bowing, Hypoplastic ... |
ORPHA:96334 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Increased nuchal translucen... |
OMIM:618494 |
Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Ventricular septal defect, Slender finger |
OMIM:147800 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Neutropenia |
OMIM:618752 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... |
OMIM:600987 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Thrombocytopenia, Cer... |
ORPHA:99901 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Short stature, Lymphedema, Pancreatic cysts, Polysplenia |
OMIM:211890 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Increased nuchal translucency, Patent ductus a... |
OMIM:615668 |
Cronkhite-Canada Syndrome |
|
Lymphedema, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:2930 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Short Stature And Facioauriculothoracic Malformations |
|
Cervical ribs, Ventricular septal defect |
OMIM:609654 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Ventricular ... |
ORPHA:2008 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
OMIM:314320 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Frank-Ter Haar Syndrome |
|
Short palm, Bowing of the long bones, Ventricular septal defect, Secundum atrial septal defect, M... |
OMIM:249420 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100080 |
Multiple Pterygium Syndrome, X-Linked |
|
Edema, Polyhydramnios, Flexion contracture, Thin ribs, Amyoplasia, Hypoplastic heart, Short finge... |
OMIM:312150 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regur... |
OMIM:300972 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl... |
OMIM:615503 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
Cystinosis, Nephropathic |
|
Hyponatremia, Generalized aminoaciduria, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalem... |
OMIM:219800 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... |
ORPHA:209905 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... |
ORPHA:47612 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated gamma-glutamyltransferase level, Atrial septal defect, Atrioventricular canal defect, He... |
OMIM:619573 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Fifth finger distal phalanx clinodactyly |
ORPHA:3369 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Ventricular septal defect |
OMIM:615236 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Elevated circulating alkaline phosphatase concentration, Anemia, Hepatosplenome... |
ORPHA:210110 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... |
OMIM:610978 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Ventricular septal defect, Patent ductus arteriosus, Drumstick terminal phalanges,... |
OMIM:612938 |
Sézary Syndrome |
|
Hepatomegaly, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
3C Syndrome |
|
Finger syndactyly, Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology,... |
ORPHA:7 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Growth delay, ... |
ORPHA:541423 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Periorbital edema, Growth delay, Hypoplasia of the thymus, ... |
OMIM:613177 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An... |
OMIM:223350 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Short palm, Neonatal death, Patent foramen ovale, Shor... |
OMIM:269860 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly |
OMIM:245552 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Atrial septal defect, Clinodactyly of the 5th ... |
OMIM:201000 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Intrauterine ... |
OMIM:615102 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Ventricular septal defect, Edema, Partial duplication of thumb pha... |
OMIM:618348 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno... |
OMIM:608013 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:616435 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly |
OMIM:602501 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Respiratory failure, Hypertension |
ORPHA:363400 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge... |
ORPHA:251071 |
Multiple Pterygium Syndrome, Lethal Type |
|
Edema, Polyhydramnios, Flexion contracture, Thin ribs, Amyoplasia, Hypoplastic heart, Short finge... |
OMIM:253290 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Severe... |
ORPHA:440713 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Hypoplasia of the thymus, Atrial septal defect, Hypothyroidism, Hypoparathyroidis... |
ORPHA:567 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho... |
ORPHA:540 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De... |
OMIM:251290 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Posterior rib fusion, Neonatal dea... |
OMIM:265380 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Bilateral cryptorchidism, Microvesicular he... |
ORPHA:66634 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Bicuspid aortic valve, Ventricular septal defect, Arac... |
OMIM:121050 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of hepatic origin, Int... |
ORPHA:100085 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Giant Cell Arteritis |
|
Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, ... |
ORPHA:397 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu... |
OMIM:620113 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Lymph... |
ORPHA:160 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ... |
OMIM:615630 |
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 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100082 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:139466 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... |
ORPHA:1596 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Elevated circulating alkaline phosphatase conce... |
OMIM:259700 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
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 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Small hand, Short... |
OMIM:617450 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... |
ORPHA:97214 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Splenomegaly, Med... |
ORPHA:3452 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, Congenital di... |
ORPHA:261344 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Recurrent sinusitis, Pulmonary arterial hyp... |
ORPHA:85202 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... |
OMIM:620073 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growt... |
OMIM:618838 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia,... |
ORPHA:83313 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, Knee flexion contractu... |
OMIM:603387 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Prolonged QT interval, Tachycardia, Ventri... |
ORPHA:26793 |
Trisomy 13 |
|
Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib mor... |
ORPHA:3378 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Bone Marrow Failure Syndrome 4 |
|
Rhizomelia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:618116 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
ORPHA:2255 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M... |
OMIM:611134 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Short stature,... |
OMIM:260400 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Digeorge Syndrome |
|
Short stature, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Ventricular... |
OMIM:188400 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vascu... |
ORPHA:1572 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... |
OMIM:616730 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Ao... |
OMIM:620025 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase ... |
OMIM:251110 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Dextrotranspositio... |
OMIM:618619 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Miscarriage, Short ... |
ORPHA:2438 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Intrauterine growt... |
OMIM:613398 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... |
OMIM:619123 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Ventricular septal defect, Atrial septal defect, Clinodactyly, Patent foramen oval... |
OMIM:614261 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Edema, Pericardial eff... |
OMIM:615846 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Short statu... |
ORPHA:333 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... |
ORPHA:83471 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Bone-marrow... |
ORPHA:275761 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Upper limb undergrowth, Lower limb hyperton... |
OMIM:169400 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Sit... |
ORPHA:1908 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Polyhydramnios, Hypop... |
ORPHA:2347 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... |
ORPHA:542323 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... |
OMIM:259720 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Metaphyseal widening, Respiratory insufficiency, Abnormality of the ... |
OMIM:135100 |
X-Linked Agammaglobulinemia |
|
Short stature, Abnormality of the tonsils, Abnormality of the lymphatic system, Hepatitis, Anemia... |
ORPHA:47 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, CNS foam cells, Polyhydramnios, Fetal ascites, B... |
OMIM:607625 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Edema, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver f... |
ORPHA:90051 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Thromb... |
OMIM:214500 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Foot oligodactyly, Anterior encephalocele |
OMIM:601357 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc... |
OMIM:614921 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Tetralogy of Fallo... |
ORPHA:3306 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Asthma, Pulmonary art... |
OMIM:616777 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Cardiac arrest, Myocarditis, ... |
ORPHA:139402 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Distal amyotrophy, Flexion contracture, Respiratory failure, Tapered finger |
OMIM:616505 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v... |
OMIM:617713 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood,... |
OMIM:617186 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... |
OMIM:600001 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom... |
OMIM:616843 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Broad hallux, Proximal placement of thumb, Ta... |
ORPHA:435638 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Increased circu... |
OMIM:210250 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... |
ORPHA:46627 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Spina bifida, Tracheo... |
ORPHA:1393 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A... |
OMIM:304120 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Short stature, Dextrocardia, ... |
OMIM:277380 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Central hypo... |
ORPHA:514 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:803 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Camptodact... |
OMIM:301039 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular ta... |
OMIM:605676 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphis... |
ORPHA:1926 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Pulmonary artery stenosis, Atrial septal d... |
ORPHA:75389 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle |
ORPHA:98755 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Stroke, Bacterial e... |
ORPHA:1054 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytop... |
OMIM:616738 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Micronodul... |
OMIM:192315 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Clinodactyly, Hip dislocation, Short 5th finger, Intra... |
OMIM:615583 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neopl... |
ORPHA:171 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Hip dysplasia, Arthrogryposis multiplex congenita, R... |
OMIM:613404 |
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 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Hip dislocation, Pulmonary arterial hypertension, Hip dy... |
ORPHA:447980 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Short stature, Female hypogonadism, Acute lymphob... |
OMIM:208900 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Growth delay, Anemia, Elevated hepatic iron concentration, Increase... |
OMIM:614946 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Oligohydramnios, Clinodactyly o... |
OMIM:618027 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdural hemorrhage, Cutaneo... |
OMIM:311900 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Short stature, Dextrocardia, Edema, Abnormality of the pancreas, Abnormal card... |
ORPHA:2315 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Edema, Hepatomegaly |
ORPHA:33577 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Camptodactyly of finger, Broad h... |
OMIM:300963 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... |
OMIM:620005 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Atrial septal defect, U... |
OMIM:619769 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Respiratory fai... |
ORPHA:3015 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... |
OMIM:616564 |
Emanuel Syndrome |
|
Torticollis, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Congenita... |
OMIM:609029 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... |
ORPHA:1335 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... |
OMIM:619418 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Broad 2nd toe, Clinodactyly, Pul... |
OMIM:280000 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Slender finger, Patent ductus arteriosus, Clino... |
ORPHA:329224 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Acanthocytosis, Growth delay, Increased hepatocellular lipid dropl... |
ORPHA:71 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:79473 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tapered finger, Flexion contr... |
OMIM:617452 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Brachydactyly, Dextrotransposition of the great... |
OMIM:619995 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Ventricular septal defect, Rocker bottom foot, Patent ductus arteriosus, Telangiectasi... |
OMIM:612582 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Abnormal pulmonary ... |
ORPHA:974 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... |
OMIM:617516 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... |
ORPHA:2331 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Spleno... |
ORPHA:50918 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct... |
OMIM:617159 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Leukocyto... |
ORPHA:20 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Immunodeficiency 54 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... |
ORPHA:96170 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... |
OMIM:618886 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Death in infancy, Apnea, Ragged-red muscle fibers, Concentric hypertroph... |
OMIM:252010 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Limb joint contracture, Ventricular sept... |
ORPHA:505237 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiac arrest, Ventricular... |
OMIM:212138 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... |
ORPHA:3255 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomeno... |
OMIM:615688 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-li... |
ORPHA:369891 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, Congestive heart failure, ... |
ORPHA:85450 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Flexion contracture, Intrauterine growt... |
ORPHA:79243 |
Alg3-Cdg |
|
Macroglossia, Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy |
ORPHA:79321 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Clinodactyly, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Abnormal rib morph... |
ORPHA:52 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Elevated circulating a... |
OMIM:277900 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing, A... |
OMIM:235510 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Respiratory failure, Lymphedema |
ORPHA:3226 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal pelvic girdle b... |
ORPHA:1458 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial f... |
OMIM:253800 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, 2-3 toe syndactyly, Hypomimic face |
OMIM:608572 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Congenital diaphrag... |
OMIM:618280 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Pericardial ... |
ORPHA:167 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Overlapping toe, Apnea, Flexion contracture, Elbow flexion contracture, Hip disl... |
OMIM:617301 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Small hand, Camptodactyly, Clinodactyly |
OMIM:619980 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Monosomy 22 |
|
Joint swelling, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, ... |
OMIM:300166 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h... |
ORPHA:141127 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure, Death in infancy |
OMIM:610678 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Polydactyly, Atrial septal defect, Clinodactyly, Patent foramen ovale,... |
OMIM:618950 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Incr... |
OMIM:605275 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricul... |
OMIM:264480 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic cardiomyopathy, A... |
ORPHA:436271 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Rhabdomyosarcoma, Tracheomala... |
OMIM:218040 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Miscarriage, Short hallux, Premature fusion of phalangeal e... |
OMIM:245150 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap,... |
ORPHA:254346 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase ... |
OMIM:251100 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, Absent pulmonary arter... |
OMIM:600460 |
Nephronophthisis 11 |
|
Growth delay, Hepatic fibrosis, Anemia |
OMIM:613550 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphy... |
OMIM:271640 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... |
ORPHA:63260 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... |
OMIM:613471 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... |
OMIM:619762 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari... |
ORPHA:88 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Facial edema, Leukocytosis, Cholestasi... |
ORPHA:293173 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Fetal ascites, Asce... |
OMIM:619503 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pan... |
ORPHA:456312 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... |
OMIM:600376 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hemolyt... |
ORPHA:797 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Micronodular cirrhosis, Abnormal gran... |
ORPHA:98907 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Elevated circulating growth hormone concentrati... |
ORPHA:2796 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Increased circulating l... |
ORPHA:247598 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Sandal gap, Small hand, Short foot, Short finger, Radial deviation of ... |
OMIM:270450 |
X Small Rings |
|
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact... |
ORPHA:96201 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenit... |
ORPHA:1692 |
Poliomyelitis |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... |
ORPHA:2912 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Congenital hip dislo... |
ORPHA:496641 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Short thumb, Patent duct... |
OMIM:244300 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal... |
ORPHA:457193 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Ulnar deviation of finger, Macr... |
ORPHA:3071 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Hip dysplasia, Cardiomegaly |
OMIM:618798 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Respiratory distress, Congestive heart failure, Tibial bowing, Femoral bowing, Res... |
OMIM:616482 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 toe syndacty... |
OMIM:617164 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter... |
ORPHA:354 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... |
OMIM:615879 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolapse, Mitral regurgitation, Hepatic art... |
OMIM:175050 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... |
OMIM:613309 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... |
ORPHA:1333 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Ventricular septal defect, Camptodactyly of finger, Rocker bottom foot, Cardiomega... |
OMIM:602782 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Repeated ... |
OMIM:617602 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Clinodactyly of the 5th fi... |
OMIM:220500 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short tibia, Ulnar bowing, Short 1st metacarpal, Hypoplastic acetabulae, Femoral b... |
OMIM:620076 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Ventricular septal defec... |
OMIM:117650 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Abnorma... |
ORPHA:166035 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone... |
OMIM:239200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Tachycardia, Ventricular septal defect, Apnea, Flexion contracture... |
OMIM:614653 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... |
ORPHA:411634 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Bilateral ra... |
OMIM:300514 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... |
OMIM:609053 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Polyhydramnios, Patent ductus arteriosus, Flexion contracture,... |
OMIM:300868 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Ventricular septal defect, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia... |
OMIM:235255 |
Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Absence of the pulmonary valve, Ventricular septal defect, Proximal placement of ... |
OMIM:601808 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Postaxial hand polydactyly, Pate... |
ORPHA:2473 |
Charge Syndrome |
|
Polyhydramnios, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ... |
OMIM:214800 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Bro... |
OMIM:277600 |
Rere-Related Neurodevelopmental Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Polyhydramnios, Microvesicular hepatic steatosis, Jaundice, Conges... |
OMIM:617156 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Large placenta, Short thumb, Patent ductus arteriosus, Abn... |
ORPHA:1708 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular c... |
OMIM:232220 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Interrupted aortic arch, Limb... |
OMIM:616920 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol... |
OMIM:263520 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect, Broad thumb, Brachydactyly |
ORPHA:1770 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... |
OMIM:619991 |
Ververi-Brady Syndrome |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Transposition of the great arter... |
OMIM:617982 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... |
OMIM:610536 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Polyhydramnios, Dyspnea, Short foot, Respiratory failure, Mitral... |
OMIM:617809 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Sandal gap, Tapered finger, Patent ductus arteriosus... |
OMIM:617061 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... |
ORPHA:533 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... |
OMIM:105600 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Situs inversus totalis |
OMIM:244400 |
Cat Eye Syndrome |
|
Ventricular septal defect, Absent radius, Patent ductus arteriosus, Hypoplastic left heart, Total... |
OMIM:115470 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:300998 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature |
ORPHA:3004 |
Ogden Syndrome |
|
Torticollis, Broad hallux, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shoc... |
ORPHA:276432 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscl... |
ORPHA:206436 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Toe cli... |
ORPHA:217346 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Hematemesis, Jaundice, Hepatitis, Retinal hemorrhage, Macular edem... |
ORPHA:319251 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Polyhydramnios, Death in childhood |
OMIM:619847 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Edema, Dyspnea, Dilated cardiomyo... |
ORPHA:79404 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out... |
OMIM:187300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:230900 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, 2-3 toe syndactyly, Abnormal heart morphology, ... |
ORPHA:404440 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Ventricular septal defect, Sandal gap, Hallux varus, Tapered finger, Patent ductus arte... |
OMIM:158170 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Diastasis recti, Congenital diaphra... |
ORPHA:2092 |
Dysosteosclerosis |
|
Abnormal metaphysis morphology, Ventricular septal defect, Coarse metaphyseal trabecularization |
ORPHA:1782 |
Bohring-Opitz Syndrome |
|
Syndactyly, Neonatal respiratory distress, Ventricular septal defect, Overlapping toe, Polyhydram... |
OMIM:605039 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Small hand, Shortened PR interval, Ven... |
OMIM:614947 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Ventricular septal defect, Faci... |
OMIM:607323 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Abnormality of the liver, Anemia |
ORPHA:44890 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Intrauteri... |
OMIM:611812 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus,... |
ORPHA:96191 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Adrenal overactivity, Lymp... |
ORPHA:139411 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Knee flexion contract... |
OMIM:210710 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Th... |
OMIM:222700 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Severe intrauterine growth... |
OMIM:614114 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Patent ductus arteriosus, Anemia |
ORPHA:30 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Skeletal muscle atrophy, Broad toe, Ventricular septal defect, Diastasis recti,... |
ORPHA:488632 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx |
ORPHA:280210 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Oligohydramnios |
OMIM:617666 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, ... |
OMIM:608328 |
Diaphanospondylodysostosis |
|
Increased nuchal translucency, Disproportionate short-trunk short stature, Abnormal liver lobulat... |
OMIM:608022 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent... |
OMIM:164280 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchid... |
OMIM:603467 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia, Short ster... |
OMIM:222448 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Ventricular septal defect, Postaxial hand polydactyly, Patent d... |
OMIM:211750 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular se... |
ORPHA:261330 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormality of... |
ORPHA:36426 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Splenomegaly, Anemia, Hepatomegaly |
OMIM:612301 |
Eec Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Xerostomia, Hypoplasia of t... |
ORPHA:1896 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... |
OMIM:100300 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly |
ORPHA:2707 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Polyhydramnios, Supraventricular tachycardia, Foo... |
ORPHA:273 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Intrauterine grow... |
OMIM:617360 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Dyspnea, Patellar aplasia, Abno... |
ORPHA:2554 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Short stature, Abnormal pericardium morph... |
ORPHA:355 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Short stature, Portal hypertension, Cholestasis, Gro... |
OMIM:613658 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Long fingers, Coronary ... |
OMIM:614294 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Dyspnea, Congestive heart failure, Bronchiectasi... |
OMIM:123700 |
Mgat2-Cdg |
|
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnor... |
ORPHA:79329 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... |
OMIM:269700 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Congenital hip dislocation, Bicuspid aortic valve, Ventricular s... |
ORPHA:457279 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Meningocele, Intracranial hemorr... |
OMIM:614424 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Death in infancy |
OMIM:614862 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Polyh... |
ORPHA:79500 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect |
OMIM:610832 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Arachnodactyly, Apnea, Tracheomalacia, Polyhydramnios, P... |
OMIM:300373 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... |
ORPHA:1780 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, Abnormal finger morpho... |
ORPHA:3472 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... |
ORPHA:163979 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Patellar aplasia, P... |
ORPHA:96167 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Small hand |
OMIM:145420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Flexion contr... |
OMIM:309520 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Abnormality of the adrenal glands, Hypoplasia of the th... |
ORPHA:861 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Coarctation of aorta... |
ORPHA:268249 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Synost... |
ORPHA:1507 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... |
OMIM:146510 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Hypoplasia of the ... |
ORPHA:96097 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ... |
ORPHA:2556 |
Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... |
OMIM:616368 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Umbilical hernia, ... |
ORPHA:96129 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Hematochezia, Anemia, Edema |
ORPHA:329971 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Short stature, Polyhydramnios, Patent foramen ovale, Congen... |
OMIM:620186 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Small hand, Short foot, Clinodactyly of the ... |
OMIM:300712 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger syndactyly... |
OMIM:256520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy |
OMIM:616538 |
Zellweger Syndrome |
|
Epiphyseal stippling, Ventricular septal defect, Respiratory insufficiency, Death in infancy |
ORPHA:912 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Abnormal metaphysis morphology, Respiratory failure |
ORPHA:1861 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac se... |
ORPHA:96147 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Short stature,... |
ORPHA:2785 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Ventricular septal defect, Camptodactyly... |
ORPHA:251014 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida... |
ORPHA:3380 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Ventricular septal defect, Overlapping toe, Broad distal phalanx of the toes, ... |
ORPHA:464738 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, 2-3 toe syndactyly, Atrial septal defect, Pulmona... |
OMIM:616449 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Tapered finger, Shortening of all distal phalanges of the fingers, Mit... |
OMIM:616202 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Anemia |
ORPHA:85408 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Sudden cardiac... |
ORPHA:537 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Chronic neutr... |
ORPHA:79259 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Humeroradial synostosis, Abnormal rib morp... |
ORPHA:3404 |
Marshall-Smith Syndrome |
|
Apnea, Distal widening of metacarpals, Coxa vara, Aspiration pneumonia, Death in childhood, Promi... |
OMIM:602535 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Tarsal synostosis, Elbow flexion c... |
OMIM:178110 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp... |
ORPHA:2072 |
Abetalipoproteinemia |
|
Cardiomegaly, Congestive heart failure, Myopathy, Respiratory failure, Distal lower limb muscle w... |
ORPHA:14 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Splenom... |
OMIM:249000 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Single interphalangeal c... |
OMIM:257920 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Pa... |
OMIM:610759 |
Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Anemia, A... |
ORPHA:169105 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Hip dysplasia, Mi... |
ORPHA:261250 |
Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterio... |
OMIM:610443 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, T lymphocytopenia, Lymph node hyp... |
OMIM:300755 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... |
OMIM:619534 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Ventricular septal defect, Broad ... |
OMIM:154400 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... |
ORPHA:2929 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhydramnios,... |
ORPHA:373 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of finger, Dislocated rad... |
OMIM:143095 |
Alg9-Cdg |
|
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... |
ORPHA:79328 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... |
OMIM:300472 |
De Barsy Syndrome |
|
Decreased muscle mass, Congenital hip dislocation, Ventricular septal defect, Patent ductus arter... |
ORPHA:2962 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Pulmonary artery stenosis, Coarctation... |
ORPHA:261494 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, Respiratory failure, Bradycardia, Ne... |
OMIM:617248 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid ste... |
ORPHA:100079 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... |
OMIM:192350 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Transient ischemic attack, Absent thumb, Patent ductus arteriosus after birth at ... |
ORPHA:500150 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent d... |
OMIM:616894 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... |
OMIM:608594 |
Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal gap, Tapered finger, Slender... |
ORPHA:193 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Prominent interphalangeal jo... |
OMIM:614609 |
Orofaciodigital Syndrome V |
|
Ventricular septal defect, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:174300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Preaxial polydactyly, Hypoplastic ... |
OMIM:617925 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Ventricular septal defect, Arachnodactyly, Aortic root a... |
OMIM:615582 |
Esophageal Atresia |
|
Respiratory distress, Ventricular septal defect, Polyhydramnios, Laryngotracheomalacia, Episodic ... |
ORPHA:1199 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Long metacarpals, Patent ductus ar... |
OMIM:117550 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... |
OMIM:250410 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Elevated circulating alkaline... |
ORPHA:521219 |
Fryns Syndrome |
|
Prominent fingertip pads, Ventricular septal defect, Rocker bottom foot, Proximal placement of th... |
OMIM:229850 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... |
OMIM:192430 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Growth delay, P... |
ORPHA:667 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Chylothorax, Polyhydramnios |
OMIM:619036 |
Den Hoed-De Boer-Voisin Syndrome |
|
Sandal gap, Ventricular septal defect, Small hand, 2-3 toe syndactyly, Death in adolescence, Shor... |
OMIM:619229 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Congenital hip dislocation, Finger clinodactyly, Clinodacty... |
ORPHA:508488 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Tracheomalacia, Accessory carpal b... |
OMIM:150250 |
Blau Syndrome |
|
Pericarditis, Splenomegaly, Xerostomia, Large vessel vasculitis, Lymphadenopathy, Joint swelling,... |
ORPHA:90340 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal de... |
OMIM:300855 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect, 2-3 toe syndactyly |
OMIM:106260 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencephaly, Transposition of the grea... |
OMIM:313850 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Recurrent... |
ORPHA:420741 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Toe syndactyly, Ventricular septal defect, Sandal gap |
ORPHA:251038 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial... |
OMIM:312870 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa... |
OMIM:134780 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, 3-4 finger cutaneous syndactyly, Ventricular septal defect, Congenital diaphragmatic ... |
OMIM:612530 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia, Dyspnea... |
ORPHA:79138 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Ventricular septal defect, Tapered finger |
OMIM:619312 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pancreatic lymphangiectasis, Postaxial hand polydactyl... |
ORPHA:1655 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Cardiac rhabdomyoma, Hypertension, Respiratory failure, Pulmonary lymphangi... |
ORPHA:805 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Death in infa... |
ORPHA:2308 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... |
OMIM:617506 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, ... |
OMIM:105650 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, 2-3 toe syndact... |
OMIM:606232 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus... |
OMIM:130720 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Hip dysplasia, Interr... |
OMIM:618846 |
Kleefstra Syndrome 1 |
|
Macroglossia, Tracheobronchomalacia, Conotruncal defect, Brachydactyly |
OMIM:610253 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Short ribs, Chronic ... |
OMIM:615636 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Missing ... |
ORPHA:97360 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Tapered finger, Polyh... |
ORPHA:464311 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Patent ... |
OMIM:618454 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus |
ORPHA:261236 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Ventricular septal defect, Palpe... |
OMIM:614866 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal defect, Metatarsus ... |
OMIM:244450 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus... |
OMIM:214100 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... |
OMIM:157800 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad hallux, Ventricular septal defect, Slender finger, Small hand, Tibial bowing, Short foot, A... |
ORPHA:251028 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Patent ductus arterio... |
ORPHA:2745 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, Camptodactyly, Ao... |
OMIM:272950 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios... |
ORPHA:51608 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Tapered finger, Increased femoral anteversion, S... |
OMIM:609460 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... |
ORPHA:2710 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Short toe, Patent ductus arteriosus, Clinodactyly o... |
ORPHA:1519 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Proximal placement of thum... |
OMIM:122470 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Short 5th finger,... |
ORPHA:1465 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Chromosome 16P13.3 Duplication Syndrome |
|
Facial hypotonia, Ventricular septal defect, Proximal placement of thumb, Tapered finger, Rocker ... |
OMIM:613458 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Ventricular septal defect, Bowing of the legs, Aplasia/Hypoplasia of the p... |
OMIM:617063 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Secundum atrial septal defect, Cryptorchidism, Hypoplasia of the thymus, Increased... |
OMIM:264090 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,... |
OMIM:619727 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Tapered finger, Mitral valve prolapse, Slender... |
ORPHA:444072 |
Jacobsen Syndrome |
|
Ventricular septal defect, Missing ribs, Flexion contracture, Clinodactyly of the 5th finger, Atr... |
OMIM:147791 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Arachn... |
ORPHA:2461 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Avascular necrosis of the capita... |
OMIM:222470 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Large iliac wing,... |
ORPHA:2636 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Missing ribs, Patent ductus arteriosus, Rib fusion, Supernumerary ribs |
OMIM:206900 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Overlapping toe, Polyhydramnios, Patent ductus arteriosus, Hip disloca... |
OMIM:618268 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Preaxial hand polydac... |
OMIM:101200 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Tapered finger, Coxa valga, Macroglossia, Perimembranous ventricular s... |
OMIM:301040 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... |
ORPHA:500095 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Arac... |
ORPHA:464306 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Short middle phala... |
OMIM:301030 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Genu valgum |
OMIM:617798 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Slender long bone, Ventricular septal defect, Proximal placement of thumb, Coxa valga |
OMIM:212066 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Hydr... |
ORPHA:646 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Macroglossia, ... |
OMIM:617107 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Asthma, Patent ductus arteriosus, Small hand... |
ORPHA:444077 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Ventricular septal defect, Congenital diaphragmatic hernia, Proximal placement... |
ORPHA:818 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Dysplastic tricuspid valve, Abnormal mitral va... |
ORPHA:1724 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Secundum atrial septal defect, Atrial septal defect, Recurrent aspiration p... |
OMIM:616268 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Flexion contracture, Intraut... |
OMIM:227645 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Macroglossia, Cardiomyopathy, Polydactyly, Atrial septal defect, Intra... |
ORPHA:769 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Preaxial hand ... |
OMIM:236680 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal... |
ORPHA:3186 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... |
OMIM:607721 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Ventricular septal defect, Aspiration |
OMIM:300000 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper... |
OMIM:608670 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Patent foramen ovale, Hip subl... |
OMIM:613457 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Polyhydramnios, Flexion contracture, Aortic isthmus hypoplasia, Hypoplastic... |
OMIM:180849 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... |
ORPHA:2162 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Increased fibular diameter, Short tibia, Pulmonary arte... |
OMIM:258315 |
Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Intraute... |
ORPHA:125 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Clinodactyly, Patent ductus arteriosus, Coarctation of aor... |
OMIM:163950 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe... |
OMIM:301044 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... |
ORPHA:352665 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Coarctation of aorta,... |
OMIM:118450 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Aspiration, Patent foramen ovale, Sy... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Aspiration, Patent foramen ovale, Sy... |
ORPHA:353277 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Palpebral ... |
ORPHA:261337 |
Pseudoaminopterin Syndrome |
|
Asplenia, Cryptorchidism, Short stature, Patent foramen ovale |
ORPHA:221120 |
Restrictive Dermopathy |
|
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Large placent... |
ORPHA:1662 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Short ... |
ORPHA:124 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Short metatarsal, Hydrops fetalis, Absent hallux, Asp... |
OMIM:216340 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Cli... |
ORPHA:3047 |
Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Patent... |
ORPHA:672 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Clubbing, Cardiomyopathy, Bronchospasm, U... |
ORPHA:33364 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, R... |
OMIM:617140 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal... |
ORPHA:466791 |
Carpenter Syndrome 2 |
|
Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger syndactyly, Clinodact... |
OMIM:614976 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Broad hallux, Pneumonia, Avascular necrosis of ... |
ORPHA:353281 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale... |
OMIM:607872 |
Degcags Syndrome |
|
Polyhydramnios, Atrial septal defect, Diaphragmatic eventration, Intrauterine growth retardation,... |
OMIM:619488 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Prominent fingertip pads, Brachydactyly, Mesoaxial foot polydactyly, Bicusp... |
OMIM:612474 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Long fingers, Patent ... |
ORPHA:96121 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Respiratory failure, Recurrent pneumonia, Rhabdomyosarcoma |
ORPHA:647 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect, Death in infancy... |
OMIM:270400 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Ventricular septal defect, Polyhydramnios, Tapered finger, Dilatation of the vent... |
ORPHA:459070 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Overlapping toe, Hip dislocation, Clinodactyly of the 5th finger, Umbi... |
OMIM:613884 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Foot acroosteolysis, Osteolytic defects of t... |
OMIM:102500 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Recu... |
ORPHA:731 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... |
ORPHA:363958 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morpholo... |
ORPHA:268261 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Hip dysplasia, Clinodactyly of t... |
OMIM:616975 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitra... |
ORPHA:363700 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, My... |
ORPHA:904 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wris... |
OMIM:268300 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Clino... |
OMIM:309500 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Decreased muscle mass, Ventricular septal defect, Pseudoepiphyses... |
OMIM:194190 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Mitral stenosis, Ventricular septal defect, ... |
ORPHA:955 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... |
ORPHA:438213 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism, Angina pectoris, Elev... |
ORPHA:79318 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Ventricular septal defect, 1-2 toe s... |
OMIM:107480 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Coffin-Siris Syndrome 1 |
|
Prominent fingertip pads, Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia,... |
OMIM:135900 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Clinod... |
OMIM:616682 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Broad hallux, Ventricular septal defect, Postaxial hand polydactyly, Pat... |
OMIM:615948 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Ventricular septal defect |
ORPHA:1071 |
Pauci-Immune Glomerulonephritis |
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Elevated circulating creatinine concentration |
ORPHA:93126 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Right aortic arch, Lower-lim... |
ORPHA:513456 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Lymphedema, Neoplasm of the thymus, Splenomegaly, Enlarg... |
ORPHA:744 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect, Short finger, Broad finger, Umbilical hernia, Broad phalanx of the toes |
ORPHA:1934 |
Genitopatellar Syndrome |
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Hip contracture, Congenital hip dislocation, Ventricular septal defect, Polyhydramnios, Patellar ... |
OMIM:606170 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Flexion contracture, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:194050 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... |
OMIM:243800 |
Peters-Plus Syndrome |
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Syndactyly, Short metacarpal, Brachydactyly, Ventricular septal defect, Diastasis recti, Proximal... |
OMIM:261540 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Congenital diaphragmatic ... |
ORPHA:199 |
Orofaciodigital Syndrome Type 14 |
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Broad hallux, Deviation of the hallux, Ventricular septal defect, Postaxial hand polydactyly, Dup... |
ORPHA:434179 |
Igg4-Related Kidney Disease |
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Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Osteoporosis-Pseudoglioma Syndrome |
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Metaphyseal widening, Ventricular septal defect, Tibial bowing |
OMIM:259770 |
Yellow Fever |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhyd... |
OMIM:601803 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Torticollis, Bicuspid aortic valve, Ventricular septal defect, Palpebral ed... |
OMIM:619475 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Ventricular septal defect, Tapered finger, Short thumb, Patent ductus arteriosus, Shor... |
OMIM:619522 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Kabuki Syndrome 1 |
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Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect, Coarctation of a... |
OMIM:147920 |
Penile Agenesis |
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Atrial septal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Ventricular septal defect, Sandal gap, Long fingers, Asthma, Recurrent pneumonia, Cutaneous synda... |
OMIM:620330 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Generalized muscle h... |
OMIM:235730 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Partial dup... |
OMIM:164210 |
Mowat-Wilson Syndrome |
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Short stature, Bicuspid aortic valve, Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnorma... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Short stature, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphol... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Short stature, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Asplenia, Cryptorchidi... |
ORPHA:261537 |
Sotos Syndrome |
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Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... |
ORPHA:821 |
Proboscis Lateralis |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus |
ORPHA:220386 |
Schinzel-Giedion Syndrome |
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Umbilical hernia, Neural tube defect |
ORPHA:798 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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Prominent fingertip pads, Joint contracture of the 5th finger, 2-3 toe syndactyly |
OMIM:620098 |