| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... |
ORPHA:90064 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy... |
ORPHA:49827 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Thrombocytopenia |
OMIM:189800 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ... |
ORPHA:163596 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Tetralogy of Fallot |
ORPHA:1381 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| 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 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel... |
OMIM:187800 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pallor, Hypertrophic cardiomyo... |
OMIM:613561 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... |
ORPHA:231222 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:615297 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
| Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Micropht... |
ORPHA:85194 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... |
OMIM:607941 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... |
OMIM:619463 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Limb dystonia, Aggressive behavior |
OMIM:620270 |
| Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... |
ORPHA:3226 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Thrombocytopenia 5 |
|
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... |
OMIM:616216 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Stillbirth, Neonatal death, Pulmonary arterial hypertension, Thrombocyt... |
OMIM:619751 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Petechiae, Purpura |
ORPHA:3002 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... |
ORPHA:98870 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re... |
ORPHA:137675 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Weill-Marchesani Syndrome 3 |
|
Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten... |
OMIM:614819 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Atrial sep... |
OMIM:618652 |
| Transaldolase Deficiency |
|
Telangiectasia, Anemia, Hepatosplenomegaly, Cirrhosis, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly |
ORPHA:56425 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Chron... |
ORPHA:90033 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anem... |
ORPHA:99931 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... |
ORPHA:398124 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Nail-Patella Syndrome |
|
Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital pterygiu... |
OMIM:161200 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... |
ORPHA:231214 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Ja... |
ORPHA:108 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... |
ORPHA:98849 |
| Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... |
ORPHA:3099 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti... |
ORPHA:85212 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Pallor, Neutropenia, Atrial septal defect, Mic... |
OMIM:609053 |
| American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Cardiomyopathy, Pallor, Arrhyt... |
ORPHA:3386 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... |
ORPHA:86839 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Hepatic failure, Internal ... |
ORPHA:49566 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Petechiae, Macrothrombo... |
OMIM:187900 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Preeclampsia |
|
Elevated hepatic transaminase, Elevated diastolic blood pressure, Hypertension, Elevated systolic... |
ORPHA:275555 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Ecchymosis, ... |
ORPHA:88 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Bradycardia, ... |
ORPHA:90051 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc... |
OMIM:153670 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Microphthalmia, T... |
OMIM:300887 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Leukopenia,... |
ORPHA:99828 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:618116 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
| Rhabdoid Tumor |
|
Anemia, Hypertension, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Premature skin wrinkling |
OMIM:601349 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:614727 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... |
OMIM:603909 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:858 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Microcytic anemia |
OMIM:618805 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Erythema, Intracranial hemorrhage, Cerebral ischem... |
ORPHA:449285 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Increased mean platelet volume, ... |
ORPHA:182050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt... |
ORPHA:54057 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Petechiae |
ORPHA:158029 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris, Atrial... |
ORPHA:290 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... |
ORPHA:210136 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:613101 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Leukocytosis, Di... |
ORPHA:20 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia, Ventricular septal defect |
OMIM:602501 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Melen... |
ORPHA:853 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect |
OMIM:613759 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia, Hepatomegaly |
ORPHA:2123 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect |
OMIM:613730 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy |
OMIM:613155 |
| Tufted Angioma |
|
Anemia, Petechiae, Thrombocytopenia, Purpura |
ORPHA:1063 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, B lymp... |
OMIM:150550 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent... |
OMIM:617021 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg... |
OMIM:170100 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr... |
OMIM:603585 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... |
OMIM:616050 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis |
ORPHA:134 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior |
ORPHA:3077 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage |
OMIM:243500 |
| Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
| Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:620184 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomeno... |
ORPHA:3260 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, Abnormal lymphocyte morphology, Anemia |
ORPHA:229717 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Seckel Syndrome 2 |
|
Microphthalmia, Heart murmur |
OMIM:606744 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anem... |
ORPHA:91547 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis |
OMIM:618624 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... |
ORPHA:263455 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Internal hemorrhage, ... |
ORPHA:335 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Tel... |
OMIM:606003 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath... |
OMIM:212350 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... |
OMIM:619644 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Microspherophakia,... |
OMIM:277600 |
| Pierpont Syndrome |
|
Microphthalmia, Excessive wrinkling of palmar skin |
ORPHA:487825 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Anemia, Leukopenia... |
ORPHA:520 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:93267 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate... |
OMIM:611126 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Pancreati... |
OMIM:606054 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cholestasis, Anemia, Decreased liver function, Neonatal death, Thrombocytopenia |
OMIM:608104 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Ventricular septal defect, Lens luxation, Ectopia lentis, Congestive hear... |
OMIM:608328 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Anemia, Cholestat... |
ORPHA:540 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect |
OMIM:619717 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated hepatic tran... |
OMIM:300972 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Anemia |
ORPHA:329971 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Dry skin, Cutis laxa, Microcytic anemia |
OMIM:612379 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukop... |
ORPHA:292 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Anemia, Prolonged QTc interval, Thrombocytopenia |
ORPHA:231111 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia |
OMIM:152700 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Cerebral hemorrhage, Bradycardia, Thrombo... |
OMIM:617397 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Pancreatitis, Throm... |
OMIM:251000 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Impaired platelet aggregation, Epistaxis, Thrombocytopenia |
OMIM:277480 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Microphthalmia, Anophthalmia |
OMIM:613885 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr... |
ORPHA:263501 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
| Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Vasculitis, Erythema, Cardi... |
OMIM:225750 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:261272 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neut... |
OMIM:600901 |
| Acute Radiation Syndrome |
|
Skin ulcer, Telangiectasia, Granulocytopenia, Hypotension, Scaling skin, Lymphopenia, Thrombocyto... |
ORPHA:454831 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Thrombocytopenia, Vasculitis, Leukopenia, Petechiae |
ORPHA:83313 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos |
OMIM:619318 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Refsum Disease |
|
Heart block, Splenomegaly, Cardiomyopathy, Microphthalmia, Dry skin |
ORPHA:773 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:619151 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis |
ORPHA:348 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Micr... |
OMIM:274150 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Cirrhosis, ... |
OMIM:614576 |
| Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neut... |
OMIM:227650 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypoplastic spleen, Th... |
OMIM:185070 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... |
OMIM:615996 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Marfan Syndrome |
|
Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Bicuspid aortic valve, Catarac... |
OMIM:154700 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Neut... |
OMIM:227645 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Thrombocytopenia |
OMIM:613987 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Pulmonary... |
ORPHA:77259 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar... |
OMIM:616589 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Splenomegaly, Congestive heart ... |
ORPHA:525731 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, Thromboc... |
ORPHA:381 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Palmoplantar cutis laxa, Atri... |
OMIM:615355 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu... |
OMIM:301078 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive hemolytic anemia, N... |
OMIM:304790 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Microphthalmia, Paten... |
OMIM:618494 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| X-Linked Agammaglobulinemia |
|
Hepatitis, Skin ulcer, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor, Microp... |
OMIM:308300 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... |
ORPHA:42775 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Tachycardia, Anemia |
ORPHA:3392 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... |
OMIM:251290 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card... |
OMIM:618775 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Thromb... |
OMIM:214500 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:611134 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Abnormally large globe |
OMIM:618504 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
| Alg8-Cdg |
|
Elevated hepatic transaminase, Cutis laxa, Anemia, Premature skin wrinkling, Thrombocytopenia |
ORPHA:79325 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
| Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi... |
ORPHA:3378 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... |
ORPHA:99827 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:619189 |
| Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Th... |
ORPHA:47612 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
| Adenohypophysitis |
|
Normochromic anemia, Pallor, Orthostatic hypotension |
ORPHA:95512 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Lymphopenia, Thro... |
ORPHA:319218 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect |
OMIM:613870 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... |
OMIM:614074 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Ventricular septal defect |
ORPHA:77298 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hematemesis, Decreased ... |
ORPHA:274 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Vasculitis,... |
ORPHA:781 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopeni... |
OMIM:235400 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Anemia, Leukopenia, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:613845 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Abnormally large globe |
OMIM:603387 |
| Panhypophysitis |
|
Normochromic anemia, Pallor, Orthostatic hypotension |
ORPHA:95513 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Tetralogy of Fallot |
OMIM:136760 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Subco... |
ORPHA:464329 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis, Neutropenia,... |
OMIM:613989 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Splenomegaly, Hepatosplenomegaly, Anemia, Neonatal death, Hepatic failur... |
OMIM:608013 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia, Ventricular septal defect |
OMIM:620210 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microphthalmia, Heart murmur |
ORPHA:2728 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Ch... |
OMIM:127550 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Thrombocytopenia, Congestive heart failure, Hypertension, Decreased pr... |
ORPHA:1830 |
| Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor |
OMIM:606812 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangiti... |
OMIM:308230 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Abnormal left ventricular funct... |
OMIM:301056 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... |
OMIM:179613 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Microphthalmia, Ventricular septal defect, Hypertension |
OMIM:614424 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... |
ORPHA:2330 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... |
ORPHA:185 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia |
OMIM:618048 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:614526 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... |
OMIM:613001 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Leukopenia... |
ORPHA:974 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve atresia, Aortic valve... |
ORPHA:210122 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Pulmonary venous hypertension, Anemia |
ORPHA:90060 |
| Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Premature skin wrinkling |
ORPHA:1942 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
| Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Myocarditis, Leukocytosis, Fulminant hepatitis, Subconjunct... |
ORPHA:319213 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:603553 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypertensive crisis, Myocarditis, Leukocytosis, Hypertension, Pallor, Pancreati... |
ORPHA:544482 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Anemia, Leukopenia, Macrovesicular hepatic ... |
OMIM:617303 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Peritonitis, Increased circulating myelocyte count, Hepatitis, C... |
ORPHA:36234 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, Anemia, Hypertension, Cerebr... |
OMIM:242900 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... |
OMIM:614700 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bacterial endocarditis, S... |
ORPHA:97214 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cardiomyopathy, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Raynaud phenomenon, Leukopenia, Hypertension, Pulmonary arterial h... |
ORPHA:206572 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Mirage Syndrome |
|
Petechiae, Anemia, Leukopenia, Intracranial hemorrhage, Hypoplastic spleen, Lymphopenia, Thromboc... |
OMIM:617053 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Elevated hepatic transaminase, Tachycardia, Petechiae, Epistaxis, Hematemesis, Leukocytosi... |
ORPHA:340 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Persistence of... |
OMIM:260400 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Excessive wrinkled skin, Anemia |
ORPHA:3322 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:169090 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly... |
OMIM:612541 |
| Stevenson-Carey Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:611961 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
| Monosomy 18P |
|
Microphthalmia, Hypertension |
ORPHA:1598 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Mitral regurgitation,... |
OMIM:615879 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac... |
ORPHA:537 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonary arterial hypertension |
OMIM:616449 |
| Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia |
OMIM:218340 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac... |
ORPHA:36426 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Annular pancreas, Reticulocytopenia, Anemia, Neutropenia, Leukemia, ... |
OMIM:227646 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1166 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Dry skin, Scaling skin, Anemia |
OMIM:620370 |
| Roifman Syndrome |
|
Splenomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia |
OMIM:616651 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypotension |
OMIM:615668 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... |
OMIM:115470 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Multi... |
OMIM:601186 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Avian Influenza |
|
Elevated hepatic transaminase, Congestive heart failure, Hepatitis, Leukopenia, Lymphopenia, Thro... |
ORPHA:454836 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Throm... |
OMIM:222700 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati... |
OMIM:610377 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:616920 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Peritonitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia |
ORPHA:2686 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Pallor, Pulmonary arterial hypertension, Anemia |
ORPHA:667 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... |
OMIM:608233 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ... |
OMIM:123700 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Skin ulcer |
ORPHA:1806 |
| Immunodeficiency 22 |
|
Pericarditis, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cells, Thromb... |
OMIM:615758 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Atrial flutter, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
| Shigellosis |
|
Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Hypovolemic shock, Microangiopathic hemolyti... |
ORPHA:810 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Dry skin, Thrombocytopenia |
OMIM:613990 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Degcags Syndrome |
|
Pancytopenia, Tachycardia, Ventricular septal defect, Congenital hypoplastic anemia, Hepatospleno... |
OMIM:619488 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Redundant neck skin, Ventricular septal de... |
ORPHA:2519 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... |
ORPHA:99050 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Ventricular septal defect |
OMIM:234050 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Anemia |
OMIM:617883 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Ventricular septal defect |
ORPHA:251038 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Cutis laxa |
ORPHA:276432 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia |
OMIM:616271 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia affecting the eye, Tetralogy of Fallot, Transpositi... |
ORPHA:1926 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
| Kapur-Toriello Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:244300 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Costello Syndrome |
|
Ventricular septal defect, Redundant skin, Lack of skin elasticity, Mitral valve prolapse, Pulmon... |
ORPHA:3071 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... |
OMIM:618316 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart |
OMIM:618142 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
| Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia, Telangiectasia |
OMIM:606593 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:1915 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Thrombocytopenia |
OMIM:224230 |
| Vexas Syndrome |
|
Macrocytic anemia, Arteritis, Thrombocytopenia |
OMIM:301054 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arterial hypertension, ... |
OMIM:100300 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:500159 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| 3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Epistaxis, Thrombocyt... |
ORPHA:167 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:731 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Hematemesis, Jaundice, Retinal hemorrhage, Hepatitis, Melena, Anem... |
ORPHA:319251 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Asplenia, Endocardial f... |
ORPHA:99776 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:612530 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Lymphopenia, Neutropenia |
OMIM:616395 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... |
OMIM:309801 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect |
OMIM:619135 |
| Sponastrime Dysplasia |
|
Cataract, Hypospadias, Recurrent pneumonia, Neutropenia, Microcoria, Congenital aphakia |
ORPHA:93357 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Anemia |
OMIM:617244 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Hypertension, ... |
ORPHA:90038 |
| Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal... |
ORPHA:333 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Microph... |
OMIM:620185 |
| Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
| Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Telangiectasia of the skin, Abnormality of neutrophils, T... |
ORPHA:1775 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Intestinal bleeding, Gastrointestinal telangiectasia, Thrombocyto... |
OMIM:612199 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
| Incontinentia Pigmenti |
|
Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Erythema, Retinal hemorrhage,... |
ORPHA:464 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology |
ORPHA:1352 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
ORPHA:329224 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Asplenia, Partial anomalous pulmonary venous return, Ano... |
OMIM:619657 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
| Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Hematemesis, Splenomegaly, Vasculitis, Hepatitis, A... |
OMIM:615846 |
| Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf... |
OMIM:277900 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Congestive heart failure |
ORPHA:2505 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal spleen morphology |
ORPHA:2470 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect |
OMIM:301039 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Neutropenia i... |
ORPHA:391487 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Marburg Hemorrhagic Fever |
|
Shock, Lymphopenia, Reticulocytosis, Tachycardia, Pericarditis, Elevated hepatic transaminase, Pe... |
ORPHA:99826 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
| Tangier Disease |
|
Thrombocytopenia, Dry skin, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Congestive heart failure, Cardiac arrest, Cardiomyopathy |
OMIM:212720 |
| Meckel Syndrome 14 |
|
Microphthalmia, Mitral regurgitation, Tricuspid regurgitation, Single ventricle |
OMIM:619879 |
| Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:615583 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis... |
ORPHA:94093 |
| Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... |
ORPHA:46059 |
| Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
| Phace Association |
|
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:606519 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... |
OMIM:617478 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia |
OMIM:610733 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale |
OMIM:618870 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... |
ORPHA:699 |
| Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr... |
ORPHA:99829 |
| Marden-Walker Syndrome |
|
Microphthalmia, Dextrocardia |
OMIM:248700 |
| Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Scaling skin |
ORPHA:35173 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Dry skin, Telangiectasia |
OMIM:601675 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Atrial septal defect, Microphthalmia, Thrombocytopenia |
OMIM:603467 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension, Subvalvular aortic stenosis |
ORPHA:65286 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hepatosplenomegaly, Anemia, Leuko... |
ORPHA:505248 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Splenomegaly, Pulmonic stenosis, Atrial septal defect, Pulmonary arter... |
OMIM:608149 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... |
ORPHA:254346 |
| Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Erythema, Hypoplasia of the iris, Abnormal... |
ORPHA:2092 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:230900 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... |
OMIM:616564 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Castleman Disease |
|
Jaundice, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocytopenia |
ORPHA:160 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect |
OMIM:619769 |
| 19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, M... |
OMIM:620005 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora... |
OMIM:612582 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect, Dry skin, Optic disc hypoplasia |
OMIM:619306 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
| Radio-Tartaglia Syndrome |
|
Dry skin, Ventricular septal defect, Striae distensae |
OMIM:619312 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Abnormal heart morphology |
OMIM:618571 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Emanuel Syndrome |
|
Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial sep... |
ORPHA:96170 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Vasculitis, Biliary cirrhosis, S... |
ORPHA:289390 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Pulmonary arterial hypertension, Thrombocytopenia |
ORPHA:77261 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonary arterial hypertension |
ORPHA:464738 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Anomalous pulmonary... |
ORPHA:3097 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... |
OMIM:243150 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... |
ORPHA:653 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorrhage, He... |
ORPHA:509 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Myocarditis, Vasculitis, Erythema, Ane... |
ORPHA:50918 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Palmoplantar cutis laxa, Cardiomyopathy, Hypertrophic... |
OMIM:605275 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Ventricular septal defect |
OMIM:615630 |
| Cohen Syndrome |
|
Neutropenia, Microphthalmia, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
| Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Leukocytosis, Ventricular septal defect |
OMIM:615673 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Skin ulc... |
ORPHA:2072 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
| Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... |
OMIM:609029 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor |
OMIM:253280 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
| King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Dry skin, Anemia |
ORPHA:261323 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:610758 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Hepatic failure, Dry skin, ST segment depression, Hypotension, Decreased l... |
ORPHA:466650 |
| Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Rieger anomaly, Patent foramen ovale |
OMIM:270450 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Prune Belly Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2970 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Pulmonic stenosis |
OMIM:619148 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricu... |
ORPHA:508498 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
| Duane-Radial Ray Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Optic disc hypoplasia |
OMIM:607323 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Ventricular septal defect, Optic disc hypoplasia, Thrombocytopenia |
OMIM:300514 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Thrombocytopenia, Hepatomegaly |
OMIM:619005 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Skin ulcer, Scaling skin, Atrial septal defect, Microphthalmia, Leukemia, Dry skin |
ORPHA:2526 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Increased me... |
ORPHA:84064 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Macular hypoplasia, Atrial septal defect, Microphthalmia, Thrombocytop... |
OMIM:147791 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Pulmonic stenosis, Increased mean platelet volume |
OMIM:616737 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl... |
OMIM:270100 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Arterial rupture, Thrombocytopenia |
OMIM:612394 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Ventricular septal defect, Abnormally large globe, Splenomegaly, Hepatosplen... |
ORPHA:1655 |
| 19Q13.11 Microdeletion Syndrome |
|
Dry skin, Ventricular septal defect |
ORPHA:217346 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper... |
OMIM:609049 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia |
OMIM:263700 |
| Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... |
OMIM:158170 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... |
ORPHA:79282 |
| Hallermann-Streiff Syndrome |
|
Telangiectasia, Hypertension, Pulmonary arterial hypertension, Microphthalmia, Dry skin |
OMIM:234100 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa... |
OMIM:601808 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... |
OMIM:121050 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect |
OMIM:218350 |
| Mogs-Cdg |
|
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
| Trisomy 1Q |
|
Anophthalmia, Ventricular septal defect |
ORPHA:261344 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Polysplenia, A... |
OMIM:201000 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... |
OMIM:614921 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
| Mosaic Trisomy 1 |
|
Microphthalmia, Ventricular septal defect |
ORPHA:1692 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Elevated hepa... |
OMIM:619991 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dysphagia, Dystonia, Laryngeal dystonia |
ORPHA:845 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Redundant neck skin, Ventricular septal defect |
OMIM:617360 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Splenomegaly, Congestive heart failure, Hepatosplenomegaly, Abnormal h... |
ORPHA:354 |
| Frank-Ter Haar Syndrome |
|
Redundant neck skin, Ventricular septal defect, Abnormally large globe, Secundum atrial septal de... |
OMIM:249420 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Heart murmur, Intracranial hemorrhage, Anemia, Thrombocytopenia |
ORPHA:163979 |
| Ogden Syndrome |
|
Premature atrial contractions, Redundant neck skin, Redundant skin, Facial wrinkling, Microvesicu... |
OMIM:300855 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Right bundle branch b... |
OMIM:617506 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| 2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:251014 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Thrombocytopenia |
ORPHA:572798 |
| Holoprosencephaly |
|
Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the ... |
ORPHA:2162 |
| Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Ventricular septal defect |
ORPHA:268249 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Dilated cardiomyopathy, Erythema, Mitral valve prolapse, M... |
ORPHA:2556 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Heart murmur |
ORPHA:166035 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
| Alg12-Cdg |
|
Elevated hepatic transaminase, B lymphocytopenia, Redundant skin, Thrombocytopenia |
ORPHA:79324 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617061 |
| Fryns Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Tetralogy of Fallot |
ORPHA:2059 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Ventricular septal defect, Abnormal pulmonary v... |
ORPHA:567 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
| Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Thrombocytopenia |
OMIM:301072 |
| Trichothiodystrophy |
|
Ventricular septal defect, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concen... |
ORPHA:33364 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic n... |
ORPHA:90062 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect |
ORPHA:1923 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
| Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
| Down Syndrome |
|
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Partial a... |
OMIM:190685 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Alport Syndrome 1, X-Linked |
|
Hypertension, Thrombocytopenia |
OMIM:301050 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Trisomy 18 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3380 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Hypertension |
OMIM:617729 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... |
ORPHA:77293 |
| Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Dry skin |
OMIM:610443 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Atrial septal de... |
ORPHA:1052 |
| Alagille Syndrome |
|
Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect |
ORPHA:52 |
| Goodpasture Syndrome |
|
Pallor, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Pulmonary arterial hypertension, ... |
ORPHA:2785 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Papillorenal Syndrome |
|
Microphthalmia, Hypertension |
OMIM:120330 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
| Dubowitz Syndrome |
|
Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Dry skin, Thrombocytopenia |
ORPHA:235 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology |
ORPHA:250989 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Dry skin, Neutropenia, Pulmonary arteri... |
ORPHA:163956 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
| Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Polysplenia, Atrial septal defect, Te... |
ORPHA:1335 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Redundant skin |
ORPHA:96167 |
| Char Syndrome |
|
Ventricular septal defect |
ORPHA:46627 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Mitral valve prolapse, Pulmonic sten... |
OMIM:609942 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepatosplenomegaly,... |
OMIM:602782 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Thrombocytope... |
OMIM:619004 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect |
ORPHA:452 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral microphthalmos, Renovascu... |
ORPHA:3472 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal car... |
OMIM:614294 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cutis laxa |
OMIM:605039 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Redundant neck skin, Ventricular septal defect |
OMIM:235255 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Dysphagia |
OMIM:617527 |
| Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hepatic amyl... |
ORPHA:470 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis |
OMIM:614114 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
| Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect |
OMIM:117550 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Redundant skin, Abnormal he... |
OMIM:612289 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... |
OMIM:600001 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Ventricular septal defect, Dextrocardia, Phthisis bulbi, Double outlet right ventri... |
OMIM:300166 |
| Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o... |
ORPHA:2008 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
| Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Ventricular septal defect |
OMIM:222448 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect, Microphthalmia, Arrhythmia |
OMIM:164200 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Mitral valve prolapse |
OMIM:618874 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Aplasia/Hypoplasia of the iris, Leukopenia, Anemia, A... |
ORPHA:84 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Atrial septal defect, Microphthalmia, Truncus arteriosus |
ORPHA:2538 |
| Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Microphthalm... |
OMIM:139210 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormal h... |
ORPHA:79329 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
| C Syndrome |
|
Ventricular septal defect, Cutis laxa |
OMIM:211750 |
| Stromme Syndrome |
|
Accessory spleen, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
| Cockayne Syndrome B |
|
Splenomegaly, Hypoplasia of the iris, Hypertension, Microphthalmia, Arrhythmia, Dry skin |
OMIM:133540 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
| Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
| Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Splenomegaly, Heart mur... |
OMIM:614866 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Cirrhosis, Pulmonary arterial hypert... |
ORPHA:355 |
| Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:146510 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
| Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Cockayne Syndrome Type 3 |
|
Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, ... |
ORPHA:90324 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia |
ORPHA:261494 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
| De Barsy Syndrome |
|
Excessive wrinkled skin, Ventricular septal defect, Cutis laxa, Dermal translucency |
ORPHA:2962 |
| Steinfeld Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:184705 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... |
OMIM:612474 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Dry skin, Ventricular septal defect |
OMIM:619229 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Raynaud phenomenon, Leukopenia, Hypertension, Thrombocytopenia |
ORPHA:536 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
| Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
| Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Eosinophilia, Portal hyper... |
ORPHA:797 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
| Phaver Syndrome |
|
Ventricular septal defect |
ORPHA:2876 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Chronic ... |
ORPHA:51 |
| Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Acute leukemia, Transpositi... |
ORPHA:3474 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Microcytic anemia, Splenomegaly, Congestive heart fa... |
OMIM:256040 |
| Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic cardiomyopathy, An... |
ORPHA:506 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T... |
OMIM:251260 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Ventricular septal defect |
OMIM:259770 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Dry skin, Patent foramen ovale |
OMIM:263650 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Acute lymphoblastic leukemia, Aplastic anemia |
OMIM:223370 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Ventricular septal defect, Patent foramen ovale |
OMIM:616975 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
| Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Dry skin, Ventricular septal defect |
ORPHA:769 |
| Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:610759 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia |
OMIM:236670 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300998 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Pulmonary arterial hypertension, Atrial septal defect, Microphthalmia, Pat... |
OMIM:620186 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:620113 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616777 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
| Mend Syndrome |
|
Microphthalmia, Aortic valve stenosis, Abnormal heart morphology |
ORPHA:401973 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect |
ORPHA:52055 |
| Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Asplenia, Situs inversus totalis, Aplasia/Hypoplasia of the iris,... |
ORPHA:564 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Complete atrioventricular canal defect, Tetralogy of Fallot |
OMIM:617925 |
| Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
| Fryns Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Polysplenia |
OMIM:229850 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology |
ORPHA:2166 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Pu... |
OMIM:222470 |
| Chops Syndrome |
|
Splenomegaly, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return |
OMIM:616368 |
| Zellweger Syndrome |
|
Ventricular septal defect |
ORPHA:912 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617602 |
| Okamoto Syndrome |
|
Redundant neck skin, Ventricular septal defect, Abnormally large globe, Splenomegaly, Abnormal le... |
ORPHA:2729 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Biliary cirrhosis, Thrombocytopenia |
ORPHA:2298 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:453499 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Cardiac fibroma |
ORPHA:77301 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Pericardial effusion, Pericardial lymphangiectasia, Ventricular septal defect |
OMIM:235510 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect |
OMIM:106260 |
| Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia |
ORPHA:959 |
| Renal Agenesis |
|
Hypertension, Ventricular septal defect |
ORPHA:411709 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Mitral regurgitation |
OMIM:615582 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300963 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Congestive heart failure |
ORPHA:2108 |
| Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos |
ORPHA:2839 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... |
ORPHA:2209 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Ventricular septal defect |
OMIM:214100 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
| X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Anemia |
OMIM:127000 |
| Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
| Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Cirrhosis, Thrombocytopenia |
OMIM:305000 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplastic left heart,... |
OMIM:301043 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
| Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Atrial septal defect, Microphthalmia, Tetralog... |
OMIM:309500 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Premature ventricular contraction, Hypertensio... |
OMIM:602535 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
| Alg9-Cdg |
|
Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal heart morpholo... |
ORPHA:79328 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:130720 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Anemia |
OMIM:614083 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
| Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Thrombocytopenia, Skin ulcer, Buphthalmos, Microphthalmia, Anemia |
ORPHA:534 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Telangiectasia |
OMIM:268400 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect |
OMIM:300472 |
| Cockayne Syndrome |
|
Splenomegaly, Retinal hemorrhage, Hypertension, Microphthalmia, Premature skin wrinkling |
ORPHA:191 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Patent foramen ovale, Ventricular septal defect, Tricuspid regurgitation, Hypoplastic right heart |
OMIM:616894 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Splenomegaly, Skin ulcer, Aortic valve stenosis, Dry ... |
ORPHA:955 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
| Phelan-Mcdermid Syndrome |
|
Ventricular septal defect |
OMIM:606232 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic regurgitation |
ORPHA:261330 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:607721 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
| Charge Syndrome |
|
Lymphopenia, Anophthalmia, Overriding aorta, Ventricular septal defect, Secundum atrial septal de... |
OMIM:214800 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia |
ORPHA:141099 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Annular pancreas, Thrombocytopenia |
ORPHA:2308 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Atrial septal defect, Microphthalmia, Total anomalous pulmonary venous return |
OMIM:609945 |
| Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Dry skin, Acute lymphoblastic leukemia, Transposition of the great art... |
OMIM:280000 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:142900 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale |
OMIM:618454 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
| Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
| Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect |
ORPHA:2710 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Asplenia, Splenomegaly, Abnormal cardiac septum morphology, Microphthalmia |
OMIM:249000 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect |
OMIM:609460 |
| Ulnar-Mammary Syndrome |
|
Arrhythmia, Ventricular septal defect |
ORPHA:3138 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
| Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for... |
OMIM:619268 |
| Mckusick-Kaufman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart |
ORPHA:2473 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Ventricular septal defect |
OMIM:620024 |
| Treacher-Collins Syndrome |
|
Microphthalmia, Hypoplasia of the thymus |
ORPHA:861 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonar... |
OMIM:620025 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defec... |
ORPHA:508488 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
| Charge Syndrome |
|
Anophthalmia, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Microphthalmi... |
ORPHA:138 |
| 7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect |
ORPHA:96121 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia, Complete atrioventricular canal defect, Ventricular septal defect |
OMIM:236680 |
| Short-Rib Thoracic Dysplasia 12 |
|
Splenomegaly, Ventricular septal defect, Patent foramen ovale |
OMIM:269860 |
| Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... |
ORPHA:466791 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic strok... |
OMIM:175780 |
| Trichohepatoneurodevelopmental Syndrome |
|
Splenomegaly, Ventricular septal defect |
OMIM:618268 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Tricuspid regurgi... |
OMIM:619534 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Abnormal heart morpholo... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Abnormal heart morpholo... |
ORPHA:352665 |
| Opitz Gbbb Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:2745 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect |
OMIM:619575 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464311 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Ventricular septal defect, Splenomegaly, Polysplenia, Anemia |
OMIM:619418 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Cerebral hemorrhage, Thrombocytopenia, Cutis laxa |
ORPHA:666 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect |
OMIM:263520 |
| Neu-Laxova Syndrome 1 |
|
Microphthalmia, Ventricular septal defect, Patent foramen ovale, Transposition of the great arteries |
OMIM:256520 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
| Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
| Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis |
OMIM:614609 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Exaggerated startle response, Osteoporosis, Dysphagia, Dystonia, Stereotypical hand w... |
ORPHA:438213 |
| Holoprosencephaly 1 |
|
Microphthalmia, Single ventricle |
OMIM:236100 |
| Roberts Syndrome |
|
Microphthalmia, Thrombocytopenia |
ORPHA:3103 |
| Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo... |
ORPHA:1507 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Polysplenia, Tricuspid... |
OMIM:164280 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
| Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pu... |
OMIM:163950 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Muscular ventri... |
OMIM:619503 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464306 |
| Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... |
ORPHA:97360 |
| Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Arrhyth... |
OMIM:218040 |
| Aicardi Syndrome |
|
Microphthalmia |
OMIM:304050 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
| Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Atrial septal defect,... |
ORPHA:904 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect |
OMIM:611812 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Tetralogy of Fallot |
ORPHA:306542 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| 3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Conjunctival telangiectasia |
OMIM:257920 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Mi... |
OMIM:235730 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Splenomegaly, Cardiomyopat... |
ORPHA:373 |
| Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Aplasia/Hypoplasia affecting the eye, Ventri... |
ORPHA:818 |
| Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Pulmonary arteria... |
ORPHA:444077 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Mitral... |
OMIM:157800 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Dry skin, Hypertension, Atrial sep... |
OMIM:210710 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Thrombocytopenia |
ORPHA:79078 |
| Coffin-Siris Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1465 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation |
OMIM:271640 |
| Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300373 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1708 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Phthisis bulbi, Ventricular septal defect |
OMIM:619727 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... |
OMIM:619475 |
| Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Ventricular septal defect, Hepatosplenomegaly, Cutis laxa, Atrial septal def... |
ORPHA:96334 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
| Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:616268 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia |
OMIM:273395 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia, Telangiectasia |
OMIM:305600 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular se... |
OMIM:180849 |
| Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
| Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
| Digeorge Syndrome |
|
Splenomegaly, Anemia, Hypoplasia of the thymus, Cholelithiasis, Hepatic steatosis, Thrombocytopenia |
OMIM:188400 |
| Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Splenomegaly, Hypertension, Atrial septal defect, Hypertrophic cardiom... |
OMIM:270400 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... |
ORPHA:353281 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Autoimmune hemolytic anemia, Ventricular septal defect |
ORPHA:436252 |
| Pallister-Hall Syndrome |
|
Atrial septal defect, Microphthalmia, Atrioventricular canal defect, Ventricular septal defect |
ORPHA:672 |
| Zttk Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic regurgitation |
OMIM:617140 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Anemia |
ORPHA:93325 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Cut... |
OMIM:194050 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
| Holoprosencephaly 2 |
|
Microphthalmia, Single ventricle |
OMIM:157170 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
| Townes-Brocks Syndrome |
|
Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Atrial septal defect, Mi... |
ORPHA:857 |
| Viss Syndrome |
|
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mi... |
OMIM:619472 |
| Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
| Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology |
OMIM:219000 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Increased axial length of the globe |
ORPHA:513456 |
| Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
| Witteveen-Kolk Syndrome |
|
Intracranial hemorrhage, Microphthalmia |
OMIM:613406 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... |
ORPHA:353277 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Asplenia, ... |
ORPHA:261552 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect |
OMIM:102500 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect |
ORPHA:1393 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... |
OMIM:607872 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia |
OMIM:616145 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
ORPHA:3047 |
| Alagille Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:118450 |
| Limb Body Wall Complex |
|
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology |
ORPHA:2369 |
| Roberts-Sc Phocomelia Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Accessory spleen |
OMIM:268300 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect |
ORPHA:459070 |
| Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Rieger anomaly, Ventricular septal defect, Accessory spleen |
OMIM:194190 |
| Keutel Syndrome |
|
Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Splenomegaly, Cardiomyopathy, Total anomalous pulmonary venous return,... |
OMIM:312870 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Asplenia, Abnormal heart morphology, ... |
ORPHA:261537 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
| Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Asplenia, Abnormal heart morphology, Abnormal cardiac septum morphology, P... |
ORPHA:2152 |
| Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:117650 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
| Omodysplasia 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
| Cornelia De Lange Syndrome |
|
Atrial septal defect, Phthisis bulbi, Ventricular septal defect |
ORPHA:199 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect |
OMIM:618846 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:141127 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
| Ulnar-Mammary Syndrome |
|
Arrhythmia, Ventricular septal defect |
OMIM:181450 |
| Coffin-Siris Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:135900 |
| Kabuki Syndrome 1 |
|
Atrial septal defect, Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia |
OMIM:147920 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Optic nerve hypoplasia |
OMIM:620330 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia, Ventricular septal defect, Tetralogy of Fallot |
OMIM:164210 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial ... |
OMIM:216340 |
| Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615948 |
| Vater/Vacterl Association |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
OMIM:192350 |
| Peters-Plus Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:261540 |
| Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
| Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect |
ORPHA:434179 |
| Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegaly, Dilated car... |
OMIM:243800 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Bicuspid aortic valve |
OMIM:309800 |
| Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:606170 |
| Sotos Syndrome |
|
Atrial septal defect, Acute lymphoblastic leukemia, Ventricular septal defect, Abnormal heart mor... |
ORPHA:821 |
| Pallister-Killian Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Aortic valve stenosis, Ventricular septal defect |
OMIM:601803 |
