| Loeffler Endocarditis |
|
Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, Myocardia... |
ORPHA:75566 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de... |
OMIM:615779 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Subva... |
OMIM:614980 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Secundum atrial septal defect, Muscular ventricular s... |
OMIM:620203 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Anemia, A... |
ORPHA:85451 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... |
OMIM:611556 |
| 7P22.1 Microduplication Syndrome |
|
Macrocephaly, Abnormal heart morphology, Hypertelorism |
ORPHA:314034 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Ventricular septal defect, Left ventri... |
ORPHA:860 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Cardi... |
OMIM:616866 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Small for gestational age, Extramedul... |
OMIM:617021 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy... |
OMIM:108900 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Weakness of facial musculature, Mandibular prognathia, Muscle fiber ... |
ORPHA:324604 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis, Microcephaly, Secondary microcephaly |
OMIM:615599 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic diameter, Lef... |
OMIM:612201 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
| Polyvalvular Heart Disease Syndrome |
|
Pulmonic stenosis, Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Aortic v... |
ORPHA:228410 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
| Partial Atrioventricular Septal Defect |
|
Mitral regurgitation, Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Syncop... |
ORPHA:1330 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... |
ORPHA:206546 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy... |
OMIM:115197 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Edema, Hypertelorism, Hepatomegaly, Failure to thrive, Pericardial effusion, ... |
OMIM:608776 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Macrocephaly, Pulmonic stenosis, Skeletal muscle atrophy, Failure ... |
OMIM:614300 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Failure to thriv... |
OMIM:615285 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy, Failure to thrive, Congestiv... |
OMIM:619048 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Small for gestational age, Arrhythmia, Polyhydramnios, Capillary leak,... |
ORPHA:1041 |
| Noonan Syndrome 8 |
|
Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Left ventricular hypertrophy, Vent... |
OMIM:615355 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... |
ORPHA:2414 |
| Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Progressive microcephaly, Atrial septal defect, Ventricular septal def... |
OMIM:614261 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular... |
OMIM:220210 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Small for gestational age, Deeply set eye, Hyperplasia of the maxi... |
OMIM:620194 |
| Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis, Enamel hypoplasia |
ORPHA:2871 |
| Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Mitral regurgitation, Anemia, Hypertension, Hepatomegaly, Aortic... |
OMIM:230800 |
| Craniofaciofrontodigital Syndrome |
|
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Edema, Atrial septal defect,... |
ORPHA:363705 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Left ventricular systolic dysfunction, EMG: myopathic abnormalities, Right ventricu... |
ORPHA:353 |
| Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... |
OMIM:615248 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cor pulmonale, Cleft palate |
OMIM:261800 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... |
ORPHA:3092 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Nonimmune hydrops fetalis, Impaired lymphocyte transformation with phyt... |
OMIM:619313 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... |
OMIM:608751 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... |
ORPHA:1329 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Failure to thrive, Pericardial effusion, Oligohydramnios, Hypertrophic... |
OMIM:614702 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... |
OMIM:614676 |
| Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... |
OMIM:108800 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Increased nuchal translucency, Mitral regurgitation, Atrial septal... |
OMIM:620066 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Cholestasis, Periportal fibrosis, Aor... |
OMIM:615382 |
| Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Total anomalous pulm... |
OMIM:613854 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect, Microretrognathia, Hyp... |
OMIM:619909 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Cardiomyopathy, Triceps... |
ORPHA:86812 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction, Lef... |
OMIM:613876 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
| Congenital Enterovirus Infection |
|
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hypotension, Anemia, Hydro... |
ORPHA:292 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Myopathy, Left ventricular hypertrophy, Arrhythmia, Hypertension,... |
OMIM:540000 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Reduced lef... |
ORPHA:3093 |
| Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Left ventricular hypertrophy, Knee flexion contracture, Mandibular progna... |
OMIM:619040 |
| Scheie Syndrome |
|
Mandibular prognathia, Aortic valve stenosis, Aortic regurgitation |
OMIM:607016 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... |
OMIM:613011 |
| Emanuel Syndrome |
|
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Deeply set eye, ... |
OMIM:609029 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Deeply set eye, P... |
OMIM:600987 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Dehydration, Atrial septal defect, Ventricular septal defect, Microgna... |
OMIM:208085 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tr... |
ORPHA:555874 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Pulmonic stenosis, Asplenia, Enlarged kidney, Cholestasis, Hepatic fibros... |
OMIM:615415 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect |
OMIM:618496 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Macrocephaly, Microretrognathia, Aortic valve stenosis, Patent ductus arteriosus |
OMIM:220220 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Cerebral hemorrhage, Hepatomegaly, Microcephaly, Bradycardia, Pleu... |
OMIM:617397 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation, Left ventricula... |
OMIM:613874 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Deeply set eye, Skeletal muscle atrophy, Enamel... |
OMIM:615802 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Cardiomyopathy, Hepatomegaly, Microcephaly, Micrognathia, Flexion cont... |
OMIM:608540 |
| Dominant Beta-Thalassemia |
|
Chronic hepatitis, Hyperplasia of the maxilla, Hepatosplenomegaly, High-output congestive heart f... |
ORPHA:231226 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hemolytic anemia, Left ventricular hypertrophy, Anemia, Edema, Hypertension, ... |
OMIM:619487 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... |
ORPHA:444013 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral regurgitation, Mandibular prognathia, Tricuspid regurgitation, Aortic valve stenosis, Cong... |
ORPHA:324410 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Right ventricular hypertrophy, Angina pectoris, Right v... |
OMIM:265400 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cir... |
ORPHA:77259 |
| Monosomy 18Q |
|
Secundum atrial septal defect, Biparietal narrowing, Mitral regurgitation, Dysplastic pulmonary v... |
ORPHA:1600 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... |
OMIM:612098 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Hyperplasia of the maxilla, Hepatosplenomegaly, High-output congestive heart failur... |
ORPHA:231214 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
| Cirrhotic Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Hepatomegaly, Third heart sound, Left ventricular hyp... |
ORPHA:57777 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Retrognathia, Hypertension, Microcephaly, Hypertelorism |
OMIM:619758 |
| Baraitser-Winter Syndrome 1 |
|
Retrognathia, Failure to thrive, Bicuspid aortic valve, Aortic valve stenosis, Microcephaly, Pate... |
OMIM:243310 |
| Cantu Syndrome |
|
Macrocephaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Perica... |
OMIM:239850 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Left ventricular hypertrophy, Hypertension, Oligohydramnios, Flexion c... |
OMIM:616733 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Decreased body weight, Microcephaly |
OMIM:618665 |
| Cardiac Diverticulum |
|
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1686 |
| 3C Syndrome |
|
Macrocephaly, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:7 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Ventricular septal defect, Thrombocytopenia, Normochromic anemia, Peri... |
OMIM:618775 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Mild microcephaly, Left ventricular hypertrophy, Distal amyotrophy,... |
ORPHA:3208 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... |
OMIM:607685 |
| Acquired Von Willebrand Syndrome |
|
Mitral regurgitation, Normocytic anemia, Pulmonic stenosis, Hypotension, Hypochromic anemia, Intr... |
ORPHA:99147 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... |
ORPHA:300751 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Cachexia, P... |
ORPHA:824 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Primary microcephaly, Secondary microcephaly, Polyhydramnios, Type 1 muscle fiber predominance, R... |
OMIM:612949 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to thrive, Hypertrophic cardiomyop... |
OMIM:618228 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Hepatosplenomegaly, Mitral regurgitation, Retrognathia, Polyhydramnios, Failure to thrive, Bicusp... |
OMIM:613563 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Hepatosplenomegaly, Biliary cirrhosis, Atrial septal defect, Cholestasis,... |
OMIM:267010 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Secundum atrial septal defect |
ORPHA:96190 |
| Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... |
ORPHA:822 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Retrognathia, Left atrial enlargement,... |
OMIM:300280 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Macrocephaly, Pulmonic stenosis, Skeletal muscle atrophy, Thin skin, Aortic valve stenosis, Flexi... |
ORPHA:75496 |
| Craniosynostosis 1 |
|
Biparietal narrowing, Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Failure to thrive, Abnormal hemidiaphragm morphology... |
ORPHA:2257 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Muscular dystr... |
OMIM:613156 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Macrocephaly, Ventricular tachycardia, Exercise-induced rhabdomyolysis, Small for gestational age... |
ORPHA:26793 |
| Developmental And Epileptic Encephalopathy 109 |
|
Primary microcephaly, Failure to thrive, Left ventricular hypertrophy |
OMIM:620145 |
| Congenital Myopathy 8 |
|
High palate, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrop... |
OMIM:618654 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Primary microcephaly, Progressive microcephaly, Retrognathia, Skel... |
OMIM:608779 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Tricuspid regurgitation, Right ventricula... |
ORPHA:275766 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Camptodactyly, Atrial septal defect, Relative macrocephaly, Aortic valve stenosis, Micrognathia, ... |
ORPHA:459061 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Asplenia, Atrial septal defect, Tetralog... |
ORPHA:210122 |
| Bronchopulmonary Dysplasia |
|
Right ventricular failure, Small for gestational age, Right ventricular hypertrophy |
ORPHA:70589 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Emanuel Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Deeply set eye, Broad jaw, Fa... |
ORPHA:96170 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Failure to thrive, Double outl... |
OMIM:601127 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Anemia, Thrombocytopenia, Pericardial effusion, Pericarditis |
ORPHA:231111 |
| Fabry Disease |
|
Left ventricular hypertrophy, Anemia, Arrhythmia, Hypertension, Transient ischemic attack, Angina... |
OMIM:301500 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... |
ORPHA:1677 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... |
OMIM:614022 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Polyhydramnios, Mandibular aplasia, Microg... |
OMIM:202650 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Increased variability in muscle fibe... |
OMIM:617228 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Aortic regurgitation, Microcephaly, Micrognathia, Hypertelorism, O... |
OMIM:620072 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Secondary microcephaly, Left ven... |
OMIM:614654 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Left atrial enlargement, Pulmonic stenosis, Failure to thrive, Sick sinus s... |
OMIM:616201 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Failure to thrive, Micr... |
ORPHA:1388 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... |
OMIM:109730 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Angioedema, Abnormal heart valve morphology, Hepatomegaly, Lymphadenopat... |
ORPHA:36412 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Aortic regurgitation |
OMIM:252605 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, Secondary microcephaly, Failure to thrive |
OMIM:620242 |
| Sick Sinus Syndrome 2 |
|
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Tangier Disease |
|
Facial diplegia, Left ventricular hypertrophy, Distal amyotrophy, Hepatomegaly, Myocardial infarc... |
OMIM:205400 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Anemia, Decreased proportion of CD3-positive T cells, Peritoneal effusion, Lymphopenia, Ab... |
ORPHA:90362 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Nemaline bodies, Micrognathia, Arthrogryposis multiple... |
OMIM:615731 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Microcephaly, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Leukocytosis, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope,... |
ORPHA:90065 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal d... |
OMIM:607941 |
| Q Fever |
|
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Anemia, Abnormality of the liver, Gran... |
ORPHA:781 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Hepatomegaly, Right ventricular hypertrophy, Failure to thrive, Microc... |
OMIM:613404 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... |
OMIM:615418 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Anemia, Abn... |
ORPHA:464329 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Failure to thrive, Left ventricular hypertrophy |
OMIM:616974 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Anasarca, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:261740 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Limb hypertonia, Polyhydramnios, Deeply set eye, Pericardial effusion, Cari... |
OMIM:620070 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Macroglossia, Tetralogy of Fallot, Hypertelorism, Aortic regurgitation, Failu... |
ORPHA:96147 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Cln3 Disease |
|
Bradycardia, T-wave inversion, Vacuolated lymphocytes, Left ventricular hypertrophy |
ORPHA:228346 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Perianal abscess, Pericardial effusion, Hypertelorism |
OMIM:614684 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Asplenia, Atrial septal defect, Enlarged kidney, Cholestasis, Hepatomegal... |
OMIM:208540 |
| Trisomy 17P |
|
Macroglossia, Hypoplastic left heart, Skeletal muscle atrophy, Aortic valve stenosis, Microcephal... |
ORPHA:261290 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
| Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormal cardiac atrium morphology, Lymphopenia, Bicuspid aortic valve, Aorti... |
ORPHA:2306 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Pulmonary arterial hypertension, Jaundice, Leukocyt... |
ORPHA:231222 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Chromosome 18Q Deletion Syndrome |
|
Dysplastic pulmonary valve, Atrial septal defect, Ventricular septal defect, Dysplastic aortic va... |
OMIM:601808 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Primary microcephaly, Secundum atrial septal defect, Increased nuchal translucency |
OMIM:620183 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Splenic rupture, Right ventricular hypertrophy, Internal hemorrhage... |
ORPHA:335 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Anemia, Atrial septal defect, Fa... |
OMIM:617300 |
| Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Microangiopathic hemolytic anemia, Leukopenia, Edema, Lymphopenia, Thrombocyt... |
ORPHA:93552 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Macrocephaly, Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology... |
ORPHA:83473 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... |
ORPHA:99106 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... |
OMIM:616028 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Anemia, Hydrops fetalis, Abnormal heart valve morphology, Hepato... |
ORPHA:77261 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy, Atrial sep... |
OMIM:253300 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Neonatal death, Hypertrophic cardiomyopathy, Congesti... |
OMIM:614096 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Microcephaly, Left ventricular hypertrophy |
OMIM:614458 |
| Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect, Occipital encephalocele, Intrauterine growth retardatio... |
OMIM:614815 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Mitral regurgitation, Left ventricular systolic dysfunction, Secondary microcephaly, Left ventric... |
OMIM:619167 |
| Eosinophilia, Familial |
|
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Aortic Valve Disease 2 |
|
Mitral regurgitation, Pulmonic stenosis, Aortic regurgitation, Bicuspid aortic valve, Aortic valv... |
OMIM:614823 |
| Lowry-Maclean Syndrome |
|
Intrauterine growth retardation, Abnormal heart morphology, Cleft palate, Delayed eruption of tee... |
OMIM:600252 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Oligohydramnios |
ORPHA:1909 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Hypoplastic left heart, Atrial septal defect, Aortic valve stenosis, Microcephaly, Mitral stenosis |
OMIM:617660 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Sm... |
OMIM:612562 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Microcephaly, Atrial septal defect |
ORPHA:254351 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:265380 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
| Acute Interstitial Pneumonia |
|
Hypertension, Lymphadenopathy, Pericardial effusion, Pleural effusion, Peripheral edema, Reduced ... |
ORPHA:79126 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1937 |
| White Forelock With Malformations |
|
Hypertelorism, Atrial septal defect |
OMIM:277740 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hypertelorism, Secundum atrial septal defect, Camptodactyly of finger, Micrognathia |
OMIM:619951 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Secundum atrial septal defec... |
OMIM:618109 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Webbed neck, Small for gestational age, Microcephaly |
ORPHA:1439 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Small for gestational age, Dehydration, Hypertension, Micrognathia... |
ORPHA:2260 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Dilated cardiomyopathy, H... |
OMIM:252011 |
| Long Qt Syndrome 15 |
|
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Diamond-Blackfan Anemia 6 |
|
Mitral regurgitation, Retrognathia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... |
OMIM:612561 |
| Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
| Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Ab... |
ORPHA:169186 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Microcephaly, Hypertrophic cardiomyopathy, Vasculitis, Edema, Lim... |
OMIM:615846 |
| Noonan Syndrome 11 |
|
Pulmonic stenosis, Atrial septal defect, Relative macrocephaly, Hypertrophic cardiomyopathy, Hype... |
OMIM:618499 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Arterial Tortuosity Syndrome |
|
Ischemic stroke, Hypertension, Aortic regurgitation, Ventricular hypertrophy, Thin skin, Telangie... |
OMIM:208050 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Hepatomegaly, Psoriasiform dermatitis, Pericardial effusion, Mediastinal lymphade... |
ORPHA:92 |
| Noonan Syndrome 10 |
|
Increased nuchal translucency, Mitral regurgitation, Pleural effusion, Pulmonic stenosis, Atrial ... |
OMIM:616564 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Microcephaly, Ventricular septal defect |
OMIM:614249 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Polycythemia, Edema, Lymphadenopathy, Pericardial effusion, Thro... |
ORPHA:2905 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hydrops fetalis, Hepatomegaly, Failure to thrive, Congestive heart failur... |
OMIM:269920 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Gastrointestinal hemorrhage, Mitral valve prolapse, Epis... |
OMIM:193400 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Enlarged kidney, Ventricular septal defect, Atrial septal defect, ... |
OMIM:300855 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Deeply set eye, Hypertelorism |
ORPHA:251076 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Mandibular prognathia, Persistence of p... |
OMIM:259710 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Vici Syndrome |
|
Leukopenia, Myopathy, Left ventricular hypertrophy, Atrial septal defect, Cardiomyopathy, Neutrop... |
OMIM:242840 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Limb hypertonia, Anemia, Hepatome... |
OMIM:259720 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Camptodactyly, Atrial septal defect, Ventricular septal defect, Wi... |
OMIM:249420 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Hypoplastic left heart, Tetralogy of Fallot, Atrial s... |
ORPHA:3097 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Torticollis, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
| Hemochromatosis, Type 2B |
|
Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Congestive heart failure, Sple... |
OMIM:613313 |
| Alkuraya-Kucinskas Syndrome |
|
Macrocephaly, Camptodactyly, Arthrogryposis multiplex congenita, Edema, Hypotelorism, Pericardial... |
OMIM:617822 |
| Meckel Syndrome, Type 8 |
|
Microcephaly, Pericardial effusion, Enlarged kidney |
OMIM:613885 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Hypotelorism, Microcephaly |
ORPHA:3469 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration, Anemia, Pancreatitis, Cardiomyopathy, Hepatomegaly, Failure to thrive, Thrombocytope... |
ORPHA:79312 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
| Singleton-Merten Syndrome 2 |
|
Arrhythmia, Aortic valve stenosis, Aortic valve calcification |
OMIM:616298 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification |
OMIM:114065 |
| Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Mitral regurgitation, Hepatomegaly, Aortic valve stenosis, Tricu... |
OMIM:614185 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Secundum atrial septal defect, Pulmonary arterial hypertension, Mitral regurg... |
OMIM:612541 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Lymphadenopathy, Pericardial effusion, Weight loss |
ORPHA:411703 |
| Bardet-Biedl Syndrome 2 |
|
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Aortic valve stenosis, Aortic regurgitation, Left ventricular hypert... |
OMIM:619698 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cerebral ed... |
OMIM:617713 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Progressive microcephaly, Anemia, Left ventricular hypertrophy, Failure to thrive ... |
OMIM:611209 |
| Weill-Marchesani Syndrome 1 |
|
Broad skull, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Shallow orbits, ... |
OMIM:277600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Atrial septal defect, Perimembranous ventricular septal defect, Oligoh... |
OMIM:620135 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Short chordae tendineae of the mitral valve, Mitral regurgitation, Aortic regurgitation, Tricuspi... |
OMIM:314400 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Retrognathia, Edema, Left ventricular hypertrophy, Atrial septal defect, Poly... |
ORPHA:79330 |
| Sandhoff Disease |
|
Macrocephaly, Hepatomegaly, Failure to thrive, Congestive heart failure, Splenomegaly |
ORPHA:796 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Diffuse hepatic steatosis, Mitral regurgitation, Left ventricular hypertrophy, Lo... |
ORPHA:746 |
| Myhre Syndrome |
|
Macrocephaly, Camptodactyly, Small for gestational age, Atrial septal defect, Ventricular septal ... |
OMIM:139210 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Open mouth |
OMIM:618763 |
| Mmep Syndrome |
|
Mandibular prognathia, Microcephaly, Ventricular septal defect |
ORPHA:3434 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Neonatal Lupus Erythematosus |
|
Macrocephaly, Abnormal electrophysiology of sinoatrial node origin, Hemolytic anemia, Aplastic an... |
ORPHA:398124 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive |
OMIM:617585 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycardia,... |
ORPHA:90064 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Meningocele, Ventricular septal defect, Intrauterine growth ... |
OMIM:611134 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cardiomyopathy, Skeletal muscle atrophy, Pericardial effusion, Micrognathia |
OMIM:620089 |
| Anauxetic Dysplasia 1 |
|
Macroglossia, Mandibular prognathia, Aortic valve stenosis, Hip contracture, Elbow flexion contra... |
OMIM:607095 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Hypertension, Right ventricular ... |
OMIM:178600 |
| Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Diastasis recti, Mitral regurgitation, Left ventricular hypertrophy, Cardiomy... |
ORPHA:576 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nonimmune hydrops fetalis, Edema, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Failure to thri... |
OMIM:212065 |
| Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Retrognathia, Facial palsy, Aortic valve stenosis, Delayed eruption of teeth, Micro... |
ORPHA:2780 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Macrocephaly, Pulmonic stenosis, Webbed neck, Hypertelorism |
OMIM:601321 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Hydrops fetalis, Wid... |
OMIM:613673 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Jaundice, Hemophagocytosis, Anemia, Edema, Abnormalit... |
ORPHA:167 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Hydrops fetalis, Polyhydramnios, Hepatomegaly, Congestive heart fail... |
ORPHA:163596 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| Fetal Minoxidil Syndrome |
|
Micrognathia, Ventricular septal defect |
ORPHA:1918 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Tooth agenesis, Anal atresia,... |
ORPHA:2863 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Camptodactyly, Retrognathia, Conical incisor, Atrial septal defect, Ve... |
OMIM:235510 |
| Feingold Syndrome Type 2 |
|
Microcephaly, Ventricular septal defect |
ORPHA:391646 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Atrial fibrillation, Abnormal heart morphology, Atriov... |
OMIM:614954 |
| Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate |
OMIM:236110 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Dextrocardia, Intestinal malrotation, Meningocele, Hepatomegaly, Abnorma... |
ORPHA:1759 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Low-outpu... |
ORPHA:308552 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Small for gestational age, Atrial septal defect, Ventricular septal defect, A... |
OMIM:606003 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Ly... |
ORPHA:199241 |
| 14Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Hypertelorism, Micrognathia, Ventricular septal defect |
ORPHA:261120 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Micrognathia, Ventricular septal defect |
OMIM:608227 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Hepatomegaly, Acute pancreatitis, Bundle branch block, Bradycardia, Ne... |
ORPHA:99827 |
| Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... |
ORPHA:439 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity, Hypomimic face, Left ventricular hypertrophy |
ORPHA:93952 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Vent... |
ORPHA:1354 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Ischemic stroke, Hypertension, Lymphopenia, Bicuspid aortic valve, Facial palsy |
OMIM:182410 |
| Synaptic Congenital Myasthenic Syndromes |
|
Pulmonary arterial hypertension, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance... |
ORPHA:98915 |
| Feingold Syndrome 2 |
|
Secondary microcephaly, Ventricular septal defect |
OMIM:614326 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Retrognathia, Atrial septal defect, Joint contracture of the 5th finge... |
ORPHA:352490 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Camptodactyly, Small thenar eminence, Small for gestational age, Pulmonic stenosis, Left ventricu... |
OMIM:619148 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Macroglossia, Small for gestational age, Broad jaw, Bicuspid aortic valve, Aortic valve stenosis,... |
OMIM:614501 |
| Pituitary Adenoma 1, Multiple Types |
|
Cardiomyopathy, Hypertension, Left ventricular hypertrophy |
OMIM:102200 |
| Alg9-Cdg |
|
Torticollis, Progressive microcephaly, Enlarged kidney, Ventricular septal defect, Atrial septal ... |
ORPHA:79328 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft lip, Cleft palate, Tented upper lip vermil... |
OMIM:616898 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventricular hypertrophy, Fa... |
OMIM:612946 |
| Diprosopus |
|
Cleft palate, Abnormal cardiac septum morphology, Non-midline cleft lip, Anencephaly |
ORPHA:1681 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Mitral regurgitation, Left ventricular hypertrophy, Atrial septal defect, Abnormal heart valve mo... |
ORPHA:230851 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Ventricular septal defect, Neonatal death, Congenital diaphragmatic hernia, Microgn... |
OMIM:615524 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
| Hajdu-Cheney Syndrome |
|
Macrocephaly, Ventricular septal defect, Hepatomegaly, Splenomegaly, Failure to thrive, Abnormal ... |
ORPHA:955 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Ventricular septal defect, Polyhydramnios, Deeply set eye, Aortic regu... |
ORPHA:464311 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Tetralogy of Fallot, Atrial septal defect, Ventricular hypertrop... |
OMIM:300887 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Mitral regurgitation, Mandibular prognathia, Hepatomegaly, Aortic valve stenosis,... |
OMIM:253010 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Small thenar eminence, Hypoplastic left heart, Ventricular septal ... |
OMIM:142900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Lower limb amyotrophy, Primary microcephaly, Pulmonic stenosis, At... |
OMIM:616268 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial... |
DECIPHER:39 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Hypertrophic cardiomyopathy |
OMIM:617757 |
| 20P12.3 Microdeletion Syndrome |
|
Macrocephaly, Wolff-Parkinson-White syndrome, Atrial septal defect, Hypoplasia of the maxilla, Hy... |
ORPHA:261295 |
| Danon Disease |
|
Lower limb amyotrophy, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely... |
OMIM:300257 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Small for gestational age, Bicusp... |
OMIM:613355 |
| Neurooculocardiogenitourinary Syndrome |
|
Secondary microcephaly, Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation,... |
OMIM:618652 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Cerebral edema, Pancytopenia, Dilated cardiomyopathy, Tachycardia |
OMIM:618321 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Cleft palate, Anencephaly, Ectop... |
ORPHA:2476 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Retrognathia, Hydrops fetalis, Lymphangioma, Hypertelorism, Lymphopenia,... |
ORPHA:2136 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| 7Q11.23 Microduplication Syndrome |
|
Macrocephaly, Retrognathia, Atrial septal defect, Ventricular septal defect, Deeply set eye, Dent... |
ORPHA:96121 |
| Teebi-Shaltout Syndrome |
|
Camptodactyly, Ventricular septal defect, Aortic valve stenosis, Microcephaly, Hypertelorism |
OMIM:272950 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Situs inversus totalis, Secundum atrial septal defect, Cardiac arrest, Ventricular septal defect,... |
OMIM:619534 |
| Laubry-Pezzi Syndrome |
|
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Left ventricul... |
ORPHA:99094 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Enamel hypoplasia, Hepatomegaly, Dental crowding, Dental maloccl... |
OMIM:253250 |
| Joubert Syndrome 14 |
|
Encephalocele, Open mouth, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hyper... |
OMIM:614424 |
| Barth Syndrome |
|
Skeletal myopathy, Arrhythmia, Mandibular prognathia, Deeply set eye, Tricuspid regurgitation, Fa... |
OMIM:302060 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Macrocephaly, Left ventricular noncompaction cardiomyopathy, Slender build, Atrial septal defect,... |
OMIM:300967 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Triangular mouth |
ORPHA:166024 |
| Familial Bicuspid Aortic Valve |
|
Heart murmur, Hypoplastic left heart, Hypertension, Aortic regurgitation, Bicuspid aortic valve, ... |
ORPHA:402075 |
| Noonan Syndrome 5 |
|
Macrocephaly, Pulmonic stenosis, Atrial septal defect, Arrhythmia, Polyhydramnios, Mandibular pro... |
OMIM:611553 |
| Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Bone-marrow foam cells, Hydrops fetalis, Cardiomyopathy, Skeletal muscle ... |
OMIM:256550 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Hypoplastic left heart, Ventricular septal defect |
OMIM:616276 |
| Klippel-Trénaunay Syndrome |
|
Macrocephaly, Edema, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Hepatomegaly, Abn... |
ORPHA:90308 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Left ventricular hypertrophy, Ventricular septal defect, Hyperte... |
OMIM:615474 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... |
ORPHA:216694 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Weill-Marchesani Syndrome 2 |
|
Broad skull, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Flexion contract... |
OMIM:608328 |
| Cardiofaciocutaneous Syndrome 3 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Failure to thrive, Hypertroph... |
OMIM:615279 |
| Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Congestive heart failure, Dilated cardiomyop... |
OMIM:602390 |
| Poland Syndrome |
|
Absence of pectoralis minor muscle, Dextrocardia, Hypoplasia of serratus anterior muscle, Unilate... |
OMIM:173800 |
| Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect,... |
OMIM:100300 |
| Fabry Disease |
|
Mitral regurgitation, Left ventricular hypertrophy, Anemia, Telangiectasia of the skin, Arrhythmi... |
ORPHA:324 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Biventricular hypertrophy |
OMIM:250951 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect |
OMIM:614876 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Small for gestational age, Primary microcephaly, Ventricular septal defect, Deeply set eye, Aorti... |
ORPHA:464306 |
| Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Mandibular prognathia, Left ventricular hypertrophy |
ORPHA:99725 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:615 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Camptodactyly, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Tachycar... |
ORPHA:3384 |
| Cardiac Valvular Dysplasia 2 |
|
Left ventricular diastolic dysfunction, Systolic heart murmur, Pulmonic stenosis, Dysplastic aort... |
OMIM:620067 |
| Mend Syndrome |
|
Limb hypertonia, Wide anterior fontanel, Abnormal heart morphology, Failure to thrive, Aortic val... |
ORPHA:401973 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Slender build, Atrial septal defect, Left ventricular hypertrophy, Abnormal left ventricle morpho... |
ORPHA:466791 |
| Lessel-Kreienkamp Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Deeply set eye, Bicuspid aortic valve, Dental malocclusi... |
OMIM:619149 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... |
OMIM:619371 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Macrocephaly, Atrial septal defect, Decreased muscle mass, Polyhydramnios, Failure to thrive, Con... |
ORPHA:500533 |
| Okamoto Syndrome |
|
Abnormal left ventricle morphology, Ventricular septal defect, Abnormal mitral valve morphology, ... |
ORPHA:2729 |
| Hurler-Scheie Syndrome |
|
Cardiomyopathy, Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Spleno... |
ORPHA:93476 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Deep philtrum, Thick vermilion border |
OMIM:300804 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... |
ORPHA:1209 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Hypotelorism, Small for gestational age, Secondary microcephaly, Ventricular septal defect |
ORPHA:3369 |
| Jacobsen Syndrome |
|
Macrocephaly, Hypoplastic left heart, Ventricular septal defect, Bone marrow hypocellularity, Thr... |
ORPHA:2308 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Increased nuchal translucency, Pulmonary arterial hypertension, Proximal muscle weakness in lower... |
ORPHA:280633 |
| Recombinant Chromosome 8 Syndrome |
|
Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal d... |
OMIM:179613 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis |
ORPHA:88643 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Retrognathia, Periorbital edema, Right ventricular hypertrophy, Morgagni diaphragmatic hernia, Pa... |
OMIM:613177 |
| Pancreatic And Cerebellar Agenesis |
|
Flexion contracture, Secundum atrial septal defect, Microcephaly, Failure to thrive |
OMIM:609069 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Eosinophilia, Lymphadenopa... |
OMIM:616651 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tachycardia, Atrial... |
OMIM:618280 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Failure to thrive, Atrial septal defect |
OMIM:617744 |
| Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Hepatic fibrosis, Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic... |
OMIM:618955 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Macrocephaly, Retrognathia, Left ventricular hypertrophy, Atrial septal defect, Hydr... |
OMIM:613610 |
| Pelger-Huet Anomaly |
|
Macrocephaly, Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of ne... |
OMIM:169400 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Macrocephaly, Atrial septal defect, Polyhydramnios, Microcephaly, Hypertelorism |
ORPHA:466926 |
| Developmental And Epileptic Encephalopathy 66 |
|
Dextrocardia, Atrial septal defect, Ventricular septal defect, Widely spaced teeth, Everted lower... |
OMIM:618067 |
| Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Obesity, Hypoplastic left heart, Ventricular septal defect |
OMIM:615996 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... |
OMIM:601005 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Mitral regurgitation, Intracranial hemorrhage, Hypertension, Mitral valve calcification, Ventricu... |
ORPHA:363618 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Hepatomegaly, Joint contracture of the hand, Aortic valve stenosis, Cong... |
OMIM:231050 |
| Chromosome 5Q12 Deletion Syndrome |
|
Macroglossia, Increased nuchal translucency, Decreased body mass index, Hypotension, Atrial septa... |
OMIM:615668 |
| Hutchinson-Gilford Progeria Syndrome |
|
Abnormal mitral valve morphology, Intracranial hemorrhage, Ventricular hypertrophy, Shallow orbit... |
ORPHA:740 |
| Congenital Rubella Syndrome |
|
Jaundice, Atrial septal defect, Anemia, Ventricular septal defect, Hepatomegaly, Thrombocytopenia... |
ORPHA:290 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Extramedullary hematopoiesis, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, F... |
ORPHA:79303 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvular aortic... |
ORPHA:3191 |
| Megalencephaly |
|
Macrocephaly, Truncal obesity, Deeply set eye, Atrial septal defect |
ORPHA:2477 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Intracranial hemorrhage, ... |
ORPHA:3226 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Microcephaly, Patent foramen ovale |
OMIM:617182 |
| Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Hypotelorism, Proptosis, Micrognathia |
OMIM:605321 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Hypertelorism, Mandibular prognathia, Ventricular septal defect |
ORPHA:94066 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Shoulder girdle muscle weakness, Facial diplegia, Hypomimic face, Left ventricular hypertrophy, M... |
ORPHA:254892 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Microcephaly, Ventricular septal defect |
ORPHA:357225 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic ... |
OMIM:614473 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Edema, Hydrops fetalis, Atrial septal defect, Biventricular hypertrophy, Tela... |
ORPHA:101028 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Abnormality of the temporomandibular joint, Abnormal rig... |
ORPHA:536471 |
| Tangier Disease |
|
Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Anemia, Coronary artery stenos... |
ORPHA:31150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Splenomegaly, Macrocytic anemia, Failure to thrive |
OMIM:619046 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Open mouth, Elongated superior cerebellar peduncle, Atrial septal defect |
OMIM:608629 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Atrial septal defect, Ventricular septal defect, Congestive heart failure, Paroxy... |
ORPHA:49827 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Tetralogy of Fallot, Atrial septal defect, Failure to thrive, Micro... |
ORPHA:2886 |
| Lethal Congenital Contracture Syndrome 2 |
|
Edema, Ventricular septal defect, Polyhydramnios, Skeletal muscle atrophy, Dilated cardiomyopathy... |
OMIM:607598 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Hypoplasia of the pons, Abnormal midbrain morphology, Anteriorly placed ... |
ORPHA:280195 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Edema, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splen... |
OMIM:603552 |
| Noonan Syndrome 12 |
|
Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Filippi Syndrome |
|
Serrated incisors, Ventricular septal defect, Proptosis, Microcephaly, Decreased body weight |
OMIM:272440 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Hypert... |
ORPHA:848 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Webbed neck, Left ventricular hypertrophy, Atrial septal defect, Micrognathia, Bicuspid aortic va... |
OMIM:245600 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Stillbirth, Hypertelorism |
OMIM:263630 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy |
ORPHA:217563 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Mitral regurgitation, Pulmonic stenosis... |
OMIM:143095 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Microcephaly, Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
| King-Denborough Syndrome |
|
Minicore myopathy, Ventricular septal defect, Type 1 muscle fiber predominance, Weakness of facia... |
OMIM:619542 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect |
OMIM:619717 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Atrial septal defect, Mandibular prognathia, Failure to thrive, Dental... |
OMIM:610883 |
| Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... |
OMIM:620247 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Hypertelorism, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
| Oculoauriculofrontonasal Syndrome |
|
Macrocephaly, Ventricular septal defect, Microcephaly, Micrognathia, Hypertelorism |
ORPHA:398156 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Heart block, Premature ventricular contraction, Microcephaly, Micrognathi... |
ORPHA:1964 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Hypoplastic left heart, Supravalvar pulmonary stenosis, Mitral atresia, Double outlet right ventr... |
OMIM:618164 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Congestive heart failure, Cerebral edema, Left ventricular hypertrophy |
OMIM:619355 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Webbed neck, Hydrops fetalis, Ventricular septal defect, Polyhydramnio... |
OMIM:616897 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:620210 |
| Adult-Onset Still Disease |
|
Myocarditis, Generalized lymphadenopathy, Leukocytosis, Joint swelling, Bone marrow hypocellulari... |
ORPHA:829 |
| Necrotizing Enterocolitis |
|
Peritonitis, Small for gestational age, Leukocytosis, Hypotension, Edema, Abnormal heart morpholo... |
ORPHA:391673 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Camptodactyly, Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricul... |
OMIM:619343 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Pulmonary arterial hypertension, Dextrocardia, Ventricular septal defect,... |
OMIM:615067 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Macrocephaly, Slender build, Atrial septal defect, Polyhydramnios, Facial hypotonia, Hypertelorism |
OMIM:611087 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal pulmonary valve morphology, Small for gestational age, Retrognathia, Ventricular septal ... |
ORPHA:268261 |
| Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Telangiectasia, Co... |
OMIM:235200 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Tetralogy of Fallot, Atrophy/Degeneration affecting the brainstem, Intra... |
ORPHA:356961 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve, Microcephaly, Hypertelorism |
OMIM:300997 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Cerebral hemorrhage, Anemia, Congenital thrombocytopenia, Hypertension, Lymphadenit... |
OMIM:618886 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Hypotelorism, Small for gestational age, Ventricular septal defect |
OMIM:314320 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Microcephaly, Ventricular septal defect |
OMIM:618506 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Small for gestational age, Ventricular septal defect, Deeply set e... |
OMIM:617635 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Polyhydramnios, Microcephaly, Oligohydramnios, Micrognathia, Splenomegaly, Ascites |
ORPHA:1046 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Atrial septal defect, Ventricular septal defect, Hypoplastic right heart, Microceph... |
OMIM:618142 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Deeply set eye, Knee flexion contracture, Elbow contracture, Contractu... |
OMIM:617201 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Intrauterine growth retardation, Tricuspid regurgitation, Ventri... |
OMIM:619051 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Severe failure to thrive, Overridin... |
ORPHA:3304 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Anasarca, Polyhydramnios, Pericardial effusion, Micrognathia, Pleural effusion, Asc... |
OMIM:618183 |
| Hemochromatosis, Type 3 |
|
Anemia, Cardiomyopathy, Lymphopenia, Cirrhosis, Neutropenia |
OMIM:604250 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypertelorism, Microcephaly, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Hydrolethalus Syndrome 2 |
|
Cleft palate, Molar tooth sign on MRI, Anencephaly |
OMIM:614120 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
| Apparent Mineralocorticoid Excess |
|
Hypertension, Failure to thrive, Left ventricular hypertrophy |
ORPHA:320 |
| Temple-Baraitser Syndrome |
|
Hypertelorism, Pulmonic stenosis, Atrial septal defect |
OMIM:611816 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Pulmonic stenosis, Ventricular septal defect, Deeply set eye, Abnormal heart morphology, Ventricu... |
ORPHA:284169 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Hypotelorism, Ventricular septal defect |
OMIM:618330 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Mitral regurgitation, Hypoplasia of teeth, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
| Gm1-Gangliosidosis, Type I |
|
Vacuolated lymphocytes, Hydrops fetalis, Abnormal heart valve morphology, Hepatomegaly, Congestiv... |
OMIM:230500 |
| Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Spleno... |
OMIM:618963 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Molar tooth sign on MRI, Midline notch of upper alveolar ridge |
OMIM:617127 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Webbed neck, Truncus arteriosus, Microcephaly, Ventricular septal defect |
OMIM:601355 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter, Ventricular septal defect |
OMIM:616816 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Secondary microcephaly, Talon... |
ORPHA:353281 |
| Grange Syndrome |
|
Hypertension, Aortic regurgitation, Ventricular septal defect |
ORPHA:79094 |
| Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, Palpitations, Abnor... |
ORPHA:2847 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Leukocytosis, Liver abscess, Anemia, Pleural empyema, Congestive heart failure, Abn... |
ORPHA:67 |
| Donnai-Barrow Syndrome |
|
Macrocephaly, Ventricular septal defect, Wide anterior fontanel, Proptosis, Congenital diaphragma... |
ORPHA:2143 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Failure to... |
OMIM:617514 |
| Marden-Walker Syndrome |
|
Camptodactyly, Dextrocardia, High palate, Pyloric stenosis, Decreased muscle mass, Intrauterine g... |
OMIM:248700 |
| Congenital Myopathy 11 |
|
Polyhydramnios, Weakness of facial musculature, Patent foramen ovale, Atrial septal defect |
OMIM:619967 |
| Snijders Blok-Campeau Syndrome |
|
Macrocephaly, Pulmonic stenosis, Atrial septal defect, Taurodontia, Perimembranous ventricular se... |
OMIM:618205 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Macrocephaly, Hypoplastic left heart, Atrial septal defect, Mandibular prognathia, Failure to thr... |
OMIM:619721 |
| Lambotte Syndrome |
|
Hypertelorism, Retrognathia, Microcephaly, Ventricular septal defect |
OMIM:245552 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Edema, Anemia, Cholestasis, Hepatomegaly, Perimembranous ventricular septal defect... |
OMIM:608104 |
| Noonan Syndrome 4 |
|
Macrocephaly, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Polyhydramnios,... |
OMIM:610733 |
| Total Anomalous Pulmonary Venous Return 1 |
|
