| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Cleft upper lip, Depres... |
OMIM:613885 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Choanal atresia, Lymphedema |
OMIM:613611 |
| Nephrosialidosis |
|
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites |
OMIM:256150 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Depressed nasal bridge, Edema, Short neck, Pericardial effusion, Hepatosplenomegaly... |
OMIM:608776 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Perianal abscess, Cryptorchidism, Pericardial effusion, Wide nasal brid... |
OMIM:614684 |
| Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... |
ORPHA:2414 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| Cantu Syndrome |
|
Anteverted nares, Bicuspid aortic valve, Depressed nasal bridge, Cardiomegaly, Pericardial effusi... |
OMIM:239850 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse... |
OMIM:235510 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Urinary incontinence, Polyhydramnios, Pericardial effusion, Carious teeth, Multipl... |
OMIM:620070 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Atrial septal defect, Depressed nasal... |
ORPHA:363705 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... |
ORPHA:244 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... |
ORPHA:26793 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Pericardial effusion, Hypersplenism, Splenomegaly, Abnormal pulmonary ... |
ORPHA:77259 |
| Pai Syndrome |
|
Encephalocele, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal ... |
ORPHA:1993 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal t... |
OMIM:615524 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Edema, Pericardial effusion, Hydrocephalus, Webbed neck... |
OMIM:617822 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... |
OMIM:616037 |
| Alg9-Cdg |
|
Villous atrophy, Short neck, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatatio... |
ORPHA:79328 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the nose, Pancreatic adenocarcin... |
ORPHA:2869 |
| Aicardi-Goutieres Syndrome 9 |
|
Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Perica... |
OMIM:619487 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... |
ORPHA:36412 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pleura morphology, Myositis, Intestinal obstruction, Renal insufficiency, Abnormal peric... |
ORPHA:183 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve ... |
ORPHA:99776 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Facial cleft, Abnormal heart morphology |
OMIM:239800 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft, Polyhydramnios |
ORPHA:3374 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Pericardial effusion, Elevated urine acetoacetic acid level, Cardiomyopa... |
OMIM:620089 |
| Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Dental crowding, Promine... |
ORPHA:228410 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchie... |
OMIM:615444 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... |
ORPHA:79126 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Facial cleft, Anterior encephalocele |
OMIM:601357 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy... |
OMIM:619003 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... |
OMIM:614935 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, A... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Situs inversus totalis, Re... |
OMIM:608647 |
| Tonne-Kalscheuer Syndrome |
|
Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Prominent nose, Convex nasa... |
OMIM:300978 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchie... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Abnormal axonemal orga... |
OMIM:613808 |
| Hennekam Syndrome |
|
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Lymphedema, H... |
ORPHA:2136 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Camptodactyly of finger, Abnormal pulmonary valve morphology, Cryptorc... |
ORPHA:1194 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Short neck, Achilles tendon contracture, Hamstring con... |
OMIM:300696 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... |
OMIM:620236 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
| Lipoid Proteinosis |
|
Recurrent respiratory infections, Nasal polyposis, Abnormal oral mucosa morphology, Abnormality o... |
ORPHA:530 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, High palate, Bifid uvula, Median cleft lip |
OMIM:155145 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Hepatitis, Cho... |
ORPHA:292 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Anteverted nares, Cardiomegaly, Polyhydramnios, Short nec... |
OMIM:616897 |
| Nathalie Syndrome |
|
Arrhythmia, Short stature |
ORPHA:2663 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Proteinuria, Depresse... |
OMIM:212065 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Flexion contracture, Hypertension, Abnormal renal corticomedullary ... |
OMIM:616733 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Recurr... |
OMIM:620197 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneum... |
ORPHA:781 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Absent outer dyn... |
OMIM:244400 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas... |
ORPHA:3032 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Myositis, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Raynaud phen... |
ORPHA:93552 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Mitral valve calcification, Hepatomegaly, Abnormal heart valve ... |
ORPHA:77261 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... |
OMIM:616198 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Hematuria, Prolonged QTc interval |
ORPHA:231111 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Abnormal lung morphology,... |
ORPHA:464329 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Depressed nas... |
ORPHA:3426 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran... |
OMIM:620183 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Pneumothorax, Bronchiectasis |
ORPHA:411703 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| Multiple Pterygium Syndrome, X-Linked |
|
Edema, Polyhydramnios, Cleft upper lip, Flexion contracture, Depressed nasal ridge, Cleft palate,... |
OMIM:312150 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pu... |
OMIM:618316 |
| Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Short stature, Facial cleft, Intrauterine growth retardation, Short nose, Spina bifi... |
ORPHA:1786 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, Anteverted nares... |
OMIM:612863 |
| Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pulmona... |
ORPHA:199241 |
| Oculomaxillofacial Dysostosis |
|
Facial cleft, Wide nasal bridge, Short stature |
ORPHA:1794 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... |
OMIM:615415 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... |
ORPHA:57777 |
| Frontonasal Dysplasia 3 |
|
Facial cleft, Wide nasal bridge |
OMIM:613456 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Proteinuria, Depressed nasal bridge, Congenital diaphragm... |
ORPHA:1272 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Growth delay, Pleural effusion, Abnormal small ... |
ORPHA:90362 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Te... |
ORPHA:3033 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Stomatitis, Pleural effusion |
OMIM:613011 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary ... |
OMIM:617194 |
| Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Malabsorption, Congestive heart failure, Hypertension, Arrhythm... |
ORPHA:225 |
| Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... |
ORPHA:139466 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Hypospadias, Dextrocardia, Anteverted nares, Short neck, Postnatal growth ... |
OMIM:248700 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Choanal atresia, Unilateral renal agenesis, Prominent nasal bridge, Un... |
OMIM:608572 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Wide mouth, Left ventricular noncompactio... |
OMIM:617228 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Midline facial cleft, Wide nasal bridge |
OMIM:603671 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Congenital diaphragmatic hernia, Broad nasal tip, Underdev... |
ORPHA:250999 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Bicuspid aortic valve, Cleft soft palate, Broad nasal tip, Short stature, Abnor... |
OMIM:618529 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... |
ORPHA:1335 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Short nose, Short stature, Facial cleft |
ORPHA:1791 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
| Cystic Fibrosis |
|
Hepatomegaly, Nasal polyposis, Meconium ileus, Recurrent bronchopulmonary infections, Rectal prol... |
OMIM:219700 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Paroxysmal supraventricular tachycardia, Short statur... |
OMIM:617877 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Pneumonia, Edema, Pericardial effusion, Hematemesis, Splenomega... |
OMIM:615846 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Al Amyloidosis |
|
Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, Abnormal EKG, Hepatomeg... |
ORPHA:85443 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... |
ORPHA:2712 |
| Alg3-Cdg |
|
Abnormality of the nose, Macroglossia, Neural tube defect, Cardiomyopathy, High palate, Pulmonary... |
ORPHA:79321 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Lef... |
ORPHA:75249 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Spinal dysra... |
OMIM:617660 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Edema, Polyhydramnios, Flexion contracture, Depressed nasal ridge, Cleft palate, Amyoplasia, Hypo... |
OMIM:253290 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract... |
OMIM:618183 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Prominent U wave, Abnorma... |
ORPHA:37553 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft... |
OMIM:202650 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Polyhydramnios, Centrall... |
OMIM:255320 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Underdeveloped nasal alae, Short neck, Polyhydramnios, Flexion c... |
OMIM:263210 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Anteverted nares, Narrow nasal ridge, Short neck, Bulbous nose, Renal hypoplasia, Renal cyst, Ure... |
OMIM:236500 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares... |
OMIM:612530 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Anophthalmia Plus Syndrome |
|
Facial cleft, Spina bifida |
ORPHA:1104 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Short stature, Hydrocephalus, ... |
OMIM:241800 |
| Acrofacial Dysostosis, Weyers Type |
|
Mild short stature, Facial cleft |
ORPHA:952 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Dental crowding, Ankle flexion contracture, Flexion contractur... |
OMIM:617468 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Narrow mouth, F... |
OMIM:616866 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Tetralogy of Fall... |
ORPHA:2847 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Myhre Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Short stature, Short... |
OMIM:139210 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Anteverted nares, Cleft soft palate, Depressed nasal bridge, Short stat... |
OMIM:616331 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Abnormality of the u... |
OMIM:175200 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Short stature, Camptodactyly |
OMIM:618453 |
| Immunodeficiency 13 |
|
Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasi... |
OMIM:615518 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Facial cleft |
ORPHA:66625 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hydrops fetal... |
OMIM:617022 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Prominent nasal bridge, Dental crowding, Long nose, Postnatal growth retardation, Pi... |
OMIM:619184 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary art... |
OMIM:611812 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Neonata... |
OMIM:601186 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Pericardial effusion, Cryptorchidism, Tooth malposition, Narrow palate, Mitral valve ... |
ORPHA:536532 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Ventricular tachycardia,... |
ORPHA:797 |
| 19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Aortic regurgitation, Hypospadias, Ventricular septal defect, Anteverted nar... |
ORPHA:254346 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
| Short-Rib Thoracic Dysplasia 12 |
|
Edema, Short neck, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Neonatal death, Patent fo... |
OMIM:269860 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Emphysema, Enlarged lacrimal glands, Hypercalci... |
OMIM:181000 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... |
OMIM:602390 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma, Congestive h... |
OMIM:235200 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, P... |
ORPHA:422 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Cleft soft palate, Eosinophil... |
OMIM:615582 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... |
OMIM:616531 |
| Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Organic aciduria, Hepatomegaly |
ORPHA:35 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... |
OMIM:619148 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Lymphedema... |
ORPHA:538 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... |
ORPHA:563 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Enlar... |
OMIM:314390 |
| Orofaciodigital Syndrome Xix |
|
Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid na... |
OMIM:620107 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Left-to-right shunt, Hypospadias, Unilateral renal agenesis, Abnormality of the ... |
ORPHA:363444 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Oligodontia, High palate, Exaggerated median tongue furrow, Exaggerat... |
OMIM:608670 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Short stature, Short neck, Biliary tract abnormality, Membranous subvalvular ao... |
ORPHA:3191 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis |
OMIM:619239 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Bifid uvula, Hepatomegaly, Short stature, Elevated circulating a... |
OMIM:614921 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Heart block, Splenomegaly, Hy... |
ORPHA:398124 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnorma... |
ORPHA:3201 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal lung lobation, Cleft palate, Thin vermilion border, Pulmonary h... |
ORPHA:2631 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol... |
ORPHA:2257 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Prominent nose, Abnormal preputium morphology, Bulbous nose, Glandular hypospa... |
ORPHA:293725 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Renal cyst, Dehydration, Hepatic fibrosis, Neonatal death, ... |
OMIM:263200 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, High pal... |
ORPHA:2059 |
| Naxos Disease |
|
Sudden cardiac death, Cleft upper lip, Congestive heart failure, Cardiomyopathy, Paroxysmal ventr... |
ORPHA:34217 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites, Increase... |
ORPHA:2905 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Short stature, Velopharyngeal... |
OMIM:614701 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Hypospadias, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Sub... |
OMIM:619103 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
| Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... |
OMIM:618779 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Short stature, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Muscula... |
OMIM:619227 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Hypospadias, Cleft soft palate, Anteverted nares, Short neck, S... |
ORPHA:2282 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:994 |
| Noonan Syndrome 5 |
|
Depressed nasal bridge, Short stature, Polyhydramnios, Short neck, Cryptorchidism, Wide mouth, Th... |
OMIM:611553 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Diaphanospondylodysostosis |
|
Depressed nasal bridge, Short neck, Increased nuchal translucency, Depressed nasal ridge, Disprop... |
OMIM:608022 |
| Constricting Bands, Congenital |
|
Encephalocele, Ectopia cordis, Bladder exstrophy, Facial cleft |
OMIM:217100 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... |
OMIM:192445 |
| Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Atrioventricular canal defect, Spina bifida occulta, ... |
ORPHA:500 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Smooth philtrum |
OMIM:614526 |
| Thanatophoric Dysplasia |
|
Depressed nasal bridge, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Pulmonary h... |
ORPHA:2655 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Short lingual frenulum, Short uvula, Renal hypoplasia, Renal cyst, Cl... |
OMIM:614091 |
| Ogden Syndrome |
|
Torticollis, Everted upper lip vermilion, Ventricular septal defect, Underdeveloped nasal alae, P... |
ORPHA:276432 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronar... |
ORPHA:1330 |
| 3Mc Syndrome 3 |
|
Short stature, Facial cleft, Horseshoe kidney, Growth delay, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Hig... |
OMIM:608836 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:613124 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Polyhydramnios, Ectopic kidney, Post... |
OMIM:117650 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Buratti-Harel Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent... |
OMIM:619314 |
| Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Epistaxis, Edema, Pericardial ef... |
ORPHA:167 |
| Mycophenolate Mofetil Embryopathy |
|
Facial cleft, Ventricular septal defect, Hydrops fetalis, Ectopic kidney |
ORPHA:268249 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis |
OMIM:606069 |
| Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ... |
ORPHA:185 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Polyhydramnios, Flexion contracture, Increased ... |
OMIM:616867 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Short neck, Cryptorchidism, Hydrocephalus, Flexion contractu... |
ORPHA:1865 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Cleft upper lip, Hydrocephalus, Bilobed right lung, ... |
OMIM:612284 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, Myocarditis... |
ORPHA:3099 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Polyhydramni... |
OMIM:608013 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Anteverted nares, Short neck, Postnatal growth retardation, Con... |
ORPHA:3309 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Short neck, Micro... |
OMIM:300855 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia, Polyhydramnios |
ORPHA:1314 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bronchiectas... |
ORPHA:980 |
| Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Anteverted nares, Ventricular septal defect, Depressed nas... |
OMIM:145420 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Oral ulcer, Conc... |
OMIM:608710 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cryptorchidism, Cardiomyopathy,... |
OMIM:249270 |
| Hydrolethalus |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft pa... |
ORPHA:2189 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Renal... |
ORPHA:156 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Anteverted nares, Depressed nasal bridg... |
OMIM:608149 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hamartoma of tongue, Congenital diaphragmatic hernia, Short neck, Polyhyd... |
OMIM:616546 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, High, narrow... |
ORPHA:228308 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Short stature, Underdeveloped nasal alae, Cryptorc... |
OMIM:192430 |
| Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Short neck, Deep philtrum, High palate, Atrial septal defect, Anteverted nares, D... |
OMIM:115150 |
| Distal Triplication 15Q |
|
Hydrocephalus, Flexion contracture, Horseshoe kidney, Abnormal heart morphology, Hydrocele testis... |
ORPHA:314588 |
| Myhre Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Cryptorchidism, Submuco... |
ORPHA:2588 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Rhizomelia, Short stature, Broad nasal tip, Cleft hard palate, Knee flexion contracture |
ORPHA:166016 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1692 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Cleft soft palate, Spina bifida, Organic aciduria, Limb hypertonia |
ORPHA:99742 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Red-brown u... |
ORPHA:228305 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ... |
OMIM:619167 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Rhizomelia, Flexion contracture, Submucous cleft hard p... |
OMIM:222765 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, ... |
OMIM:300967 |
| Dk1-Cdg |
|
Elevated hepatic transaminase, Short stature, Congestive heart failure, Dilated cardiomyopathy, C... |
ORPHA:91131 |
| Dystonia 23 |
|
Torticollis, Arrhythmia |
OMIM:614860 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia |
OMIM:310095 |
| Oculocerebrocutaneous Syndrome |
|
Facial cleft |
ORPHA:1647 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Intrauterine growth retardation, Bifid uvula, Abnormal penis... |
ORPHA:2461 |
| Desmosterolosis |
|
Severe short stature, Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Sp... |
ORPHA:35107 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Polyh... |
OMIM:300990 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Thin skin, Arrhythmi... |
ORPHA:230839 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Severe short stature, Facial palsy, High, narrow palate, Submucous cle... |
ORPHA:2780 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Submuc... |
OMIM:114300 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart fail... |
ORPHA:3386 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Anteverted nares, Short neck, Increased nuchal ... |
OMIM:619879 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Smooth philtrum, Short stature, Intestinal malrotation, Cleft soft palate, Convex nasal ridge, Hy... |
OMIM:619321 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te... |
ORPHA:85446 |
| Hec Syndrome |
|
Communicating hydrocephalus, Polyhydramnios, Vaginal hydrocele, Cardiomyopathy, Endocardial fibro... |
ORPHA:2119 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card... |
OMIM:212138 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
| Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Flexion contracture, Hig... |
OMIM:620369 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Anteverted nares, Depressed nasal bridge, Short neck, Lymphedema... |
ORPHA:1340 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft ... |
OMIM:313850 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu... |
ORPHA:42 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Facial cleft, Micropenis, Intrauterine growth retardation, Short nose, Patent for... |
OMIM:263650 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Ventricular arrhythmia, Elevated circulating growth hormone concentrati... |
ORPHA:91347 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular sep... |
ORPHA:457279 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Lymphedema, Transient i... |
OMIM:301500 |
| Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphrag... |
ORPHA:2260 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Heart block, Anteriorly placed anus, High palate, Vesicoureteral reflux, Atri... |
OMIM:617063 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Pedal edema, Hypotension, Arrhythmia, P... |
ORPHA:188 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephro... |
OMIM:617713 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Camptodactyly of finger, Cryptorchid... |
ORPHA:2990 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Depressed... |
ORPHA:26791 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Anal stenosis, Anteverted nares, Ureteral hypoplasia, Congenital diaphragma... |
OMIM:614080 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Depressed n... |
ORPHA:90652 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep... |
ORPHA:2162 |
| Diamond-Blackfan Anemia |
|
Ventricular septal defect, Cleft soft palate, Hypospadias, Depressed nasal bridge, Short neck, No... |
ORPHA:124 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
| Tetrasomy 9P |
|
Myositis, Dental crowding, Short neck, Biliary atresia, Downturned corners of mouth, High palate,... |
ORPHA:3310 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Short stature, Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Widely spaced teeth, Micropenis, Hypospadi... |
ORPHA:268261 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Facial hypotonia, Short stature, Dental crowding, Protruding tongue, Broad nasal tip, Submucous c... |
OMIM:618106 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Left ventricular systolic ... |
ORPHA:51608 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, Growth delay, Hypertension, Int... |
OMIM:614052 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Shor... |
OMIM:619950 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Short neck,... |
ORPHA:884 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduri... |
ORPHA:254913 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Wide nasal bridge, Intrauterine growth retardation... |
OMIM:613451 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Wide nose, Short statur... |
ORPHA:85201 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia |
ORPHA:99772 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Short neck, Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Neo... |
OMIM:251230 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Hors... |
ORPHA:2470 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Depressed nasal... |
ORPHA:2753 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Short stature, Supernumerary tooth, Submucous cleft hard palate, Thick lo... |
OMIM:617412 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Hypertension, Arrhythmia |
ORPHA:3222 |
| Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocarditis, Recurren... |
ORPHA:549 |
| Cystic Fibrosis |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Nasal polyposis, Meconium ileus,... |
ORPHA:586 |
| Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Anosmia, Cardiomyopathy, Arrhythmia, Limb muscle weakness... |
OMIM:266500 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:2238 |
| Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Subvalvular ... |
OMIM:600430 |
| Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormality of th... |
ORPHA:2671 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Abnormality of the nose, Large placenta, Abnormal lung mo... |
ORPHA:1708 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Atelosteogenesis, Type Ii |
|
Depressed nasal bridge, Short neck, Cleft palate, Stillbirth, Pulmonary hypoplasia |
OMIM:256050 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula, Short stature |
OMIM:601492 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Flexion contracture, Downturned corners of mouth, High palate, Short ph... |
OMIM:617140 |
| Raine Syndrome |
|
Short neck, High palate, Choanal stenosis, Microdontia, Neonatal death, Depressed nasal bridge, S... |
OMIM:259775 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Short philtrum, Micropenis, Multicystic k... |
ORPHA:1596 |
| Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, High, narrow palate, Congen... |
OMIM:208150 |
| Infantile Refsum Disease |
|
Hepatomegaly, Short stature, Facial palsy, Cardiomyopathy, Arrhythmia |
ORPHA:772 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Nephrolithiasis, Myopathy, Generalized amyotrop... |
ORPHA:352447 |
| Holoprosencephaly 1 |
|
Short stature, Facial cleft, Aplasia of the nose, Micropenis, Single ventricle |
OMIM:236100 |
| Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Facial palsy, Edema, Respiratory tract infection, Xerostomia, Stage ... |
ORPHA:85448 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Selective tooth agenesis, Underdevelop... |
OMIM:164200 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia |
ORPHA:157973 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia |
OMIM:616516 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
| Congenital Myopathy 17 |
|
Tented upper lip vermilion, Polyhydramnios, Respiratory tract infection, Dental malocclusion, Ren... |
OMIM:618975 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... |
ORPHA:1071 |
| Schilbach-Rott Syndrome |
|
Hypospadias, Short stature, Prominent nose, Long nose, Submucous cleft hard palate, Narrow mouth,... |
OMIM:164220 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolapse, Hypoplasia of the thymus, Mult... |
OMIM:613177 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
| Stickler Syndrome, Type I |
|
Anteverted nares, Depressed nasal bridge, Submucous cleft hard palate, Pierre-Robin sequence, Cle... |
OMIM:108300 |
| Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Myelomeningocele, Wide nasal bridge, Renal hypoplasia, Abnormal heart... |
OMIM:219000 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Intestinal obstruction, Pericarditis, Proteinuria, Myocardial infarction, ... |
ORPHA:342 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo... |
ORPHA:731 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... |
OMIM:615084 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat... |
ORPHA:465508 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
| Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Short stature, Congenital diaphragmatic hernia, Spin... |
ORPHA:991 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Recurrent pharyng... |
ORPHA:2331 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Asplenia, Lobulated tongue, Accessory spleen, Malformation o... |
OMIM:249000 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even... |
OMIM:608978 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy... |
ORPHA:324 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Shor... |
OMIM:229850 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short neck, Abnormality of the dentition, Cryptorchidism, Submucous clef... |
ORPHA:178303 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, ... |
OMIM:263520 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Unilateral alveolar cleft of m... |
ORPHA:2751 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Submucous cleft hard palat... |
OMIM:301043 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Recurrent respiratory infections, Severe short stature, V... |
ORPHA:3047 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Abnormal lung l... |
ORPHA:818 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hydrocephalus, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:157 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Short ... |
OMIM:309801 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Facial cleft, Wide nasal bridge |
ORPHA:861 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature, Pulmonary hypoplasia |
OMIM:618174 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Tetralogy of Fallot, Facial cleft, Wide nasal bridge |
ORPHA:306542 |
| Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Abnormality of the liver, Abnormal parotid g... |
ORPHA:252164 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Polyhydramnios, Flexion contracture, Neonatal death, Atrial septal defect, ... |
OMIM:275210 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Prominent ... |
OMIM:619503 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Hypospadias, Facial palsy, Polyhydramnios, Edema of the dorsum of hands,... |
ORPHA:171430 |
| Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... |
ORPHA:3384 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Short neck, Abnormal lung loba... |
ORPHA:958 |
| Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, R... |
ORPHA:397 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasi... |
ORPHA:746 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Abnormal lung lobation, Renal cyst, Holoprosencephaly, Atrial septal defect, Mic... |
OMIM:270400 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Short stature, Pyloric s... |
ORPHA:3138 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, ... |
OMIM:601163 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulm... |
ORPHA:99745 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Short stature, Submucous cleft hard palate, Flexion contracture, Generalized limb mu... |
OMIM:618891 |
| Platyspondylic Dysplasia, Torrance Type |
|
Depressed nasal bridge, Polyhydramnios, Hydrops fetalis, Cleft palate, Pulmonary hypoplasia, Disp... |
ORPHA:85166 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Tricuspid stenosis, Edema, Right ventricular f... |
ORPHA:100078 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Tricuspid regurgitation, Anteverted nares, Camptodactyly of finger, Short stature, Long nose, Bul... |
ORPHA:261211 |
| Cree Mental Retardation Syndrome |
|
Cryptorchidism, Hypospadias, Cleft soft palate, Webbed neck |
OMIM:606851 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdominal wall musculature, Anterio... |
OMIM:612289 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Depressed nasal bridge, Hypoplasia of the musculature, Hepatocellular carcino... |
ORPHA:231226 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Bladder dive... |
OMIM:614557 |
| Pmm2-Cdg |
|
Multiple joint contractures, Prominent nose, Lymphedema, Intracranial hemorrhage, High palate, He... |
ORPHA:79318 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Myoglobinuria, Viral infection-induced rh... |
ORPHA:57 |
| Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
| Tarp Syndrome |
|
Anteverted nares, Cryptorchidism, Pierre-Robin sequence, Tetralogy of Fallot, Cleft palate, Horse... |
ORPHA:2886 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti... |
OMIM:200995 |
| Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Pulmonary hypoplasia, Neonatal dea... |
OMIM:253310 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of to... |
OMIM:617925 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Short stature, Polyhydramnios, Short neck, Pulmonary hypoplasia, Webbed ... |
ORPHA:1486 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Median cleft lip, Ventricular septal defect, Camptodacty... |
ORPHA:2710 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide... |
OMIM:154500 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Ectopic kidney, Cryptorchidism,... |
ORPHA:3027 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Muscle fiber atrophy, Short stature, Cryptorchidism, Abnormality of skel... |
ORPHA:168572 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Ventricular t... |
ORPHA:159 |
| Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Submucous cleft hard... |
ORPHA:899 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Atelectasis, Open mouth, ... |
ORPHA:258 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Severe short stature, Disproportionate short-trunk short stature, Cleft soft palate, Polyhydramnios |
ORPHA:93316 |
| W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
| Pulmonary Arteriovenous Malformation |
|
Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangi... |
ORPHA:2038 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Rhizomelia, Hamartoma of tongue, Prominent nose, Cryptorchidism, Clef... |
OMIM:616300 |
| Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Polyhydramnios, Atrial septal defect, Aplasia/... |
ORPHA:1662 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Broad nasal tip, Submucous cleft h... |
OMIM:619680 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Short stature, Ragged-red muscle fibers, Cardiomyopathy, Renal tubular acidos... |
OMIM:530000 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Short stature, Mesomelic short statu... |
OMIM:184260 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Depressed nasal bridge, Hypoplasia of the musculature, Hepatoce... |
ORPHA:231214 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Capillary leak, Reduced left ventricular... |
ORPHA:542323 |
| Isolated Arrhinia |
|
Facial cleft, Aplasia of the nose |
ORPHA:1134 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:99944 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, Right ventricular di... |
OMIM:619472 |
| Granulomatosis With Polyangiitis |
|
Periorbital edema, Abnormal oral cavity morphology, Ureteral stenosis, Vasculitis, Pulmonary fibr... |
ORPHA:900 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Anteverted... |
OMIM:214100 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Renal cyst, Atrial septa... |
OMIM:312870 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Renal hypoplasia, Renal... |
ORPHA:93271 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Facial pal... |
ORPHA:254892 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Proteinuria, Cleft upper lip, Cleft palate, Tubulointerstiti... |
ORPHA:33001 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217085 |
| Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... |
OMIM:300166 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... |
ORPHA:99050 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Supernumerary nipple, Submucous cleft hard palate, Unilateral... |
OMIM:619122 |
| Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Cryptorc... |
ORPHA:1519 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Short stature, Pulmonary hypoplasia, Edema |
ORPHA:93296 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short neck, Swollen lip, Depressed nasal ridge, Neonatal death, Patent foramen ov... |
OMIM:256520 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Hepatomegaly, Short stature, Wi... |
ORPHA:580 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal... |
OMIM:619534 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Elbow extension contracture, Anteverted nares, Depressed nasal bridge, ... |
OMIM:616503 |
| Atelosteogenesis Type I |
|
Rhizomelia, Polyhydramnios, Malrotation of colon, Cleft palate, Neonatal short-trunk short statur... |
ORPHA:1190 |
| Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli... |
ORPHA:1848 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Type 2 muscle fiber predomin... |
OMIM:615471 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Depressed nasal bridge, Short stature, Unilateral renal agenesis, Cleft upper... |
OMIM:308050 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Broad nasal ti... |
OMIM:619194 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Short neck, Long philtrum |
ORPHA:2756 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Campomelic Dysplasia |
|
Irregular dentition, Polyhydramnios, Depressed nasal ridge, High palate, Neonatal short-limb shor... |
OMIM:114290 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Ren... |
OMIM:231680 |
| Noonan Syndrome |
|
Hepatomegaly, Short stature, Abnormal pulmonary valve morphology, Lymphedema, Cryptorchidism, Pul... |
ORPHA:648 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Depressed nasal bridge, Ventricular septal defect, Pulmonary hypoplasia, Long philtrum |
OMIM:617895 |
| Mgat2-Cdg |
|
Ventricular septal defect, Dental crowding, Hydrops fetalis, Abnormal heart morphology, Hypoplast... |
ORPHA:79329 |
| Branchioskeletogenital Syndrome |
|
Short neck, Anteriorly placed anus, Downturned corners of mouth, Short philtrum, Premature loss o... |
ORPHA:1299 |
| Coffin-Siris Syndrome 12 |
|
High palate, Patent foramen ovale, Hypospadias, Facial palsy, Anteverted nares, Depressed nasal b... |
OMIM:619325 |
| Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Depressed nasal bridge, Rectal fi... |
ORPHA:49 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Epistaxis, Congestive heart failu... |
ORPHA:727 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Costello Syndrome |
|
Polyhydramnios, Short neck, High palate, Atrial septal defect, Anteverted nares, Depressed nasal ... |
OMIM:218040 |
| Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Downturned corners of mouth, Short philtrum, Atrial septal defect, Emph... |
ORPHA:500150 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
| Liddle Syndrome |
|
Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protruding to... |
OMIM:200600 |
| Heart-Hand Syndrome Type 2 |
|
Cryptorchidism, Arrhythmia, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:1350 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury |
ORPHA:54057 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Partial anomalous pulmona... |
ORPHA:95430 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Anteverted nares, Depressed nasal bridge, Repeated pneu... |
ORPHA:536467 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Underdeveloped nasal alae, Biliary hyperplasia, Pyloric stenosis, Contracture of th... |
ORPHA:83617 |
| Hennekam-Beemer Syndrome |
|
Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Short stature, Long no... |
ORPHA:2135 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Severe short stature, Cryptorchidism, Wide nasal bridge, Pulmonary hypop... |
OMIM:224410 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Cardiac arrest, Cryptorchidism, Growth delay, Arrhythmia |
ORPHA:168593 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypoparathyroidism, Anal stenosis, Hypospadias, Depressed nasal bridge... |
ORPHA:235 |
| Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Gastrointestinal hemorr... |
ORPHA:93672 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Depressed nasal bridge, Ventricular septal defect, Polyhydramnios, Short sta... |
OMIM:615503 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... |
ORPHA:1199 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Anteverted nares, Short stature, Short neck, Carious teeth, Elbow flexion contractur... |
OMIM:601559 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature |
OMIM:609166 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
| Meier-Gorlin Syndrome 5 |
|
Short stature, Cryptorchidism, Submucous cleft hard palate, Birth length less than 3rd percentile... |
OMIM:613805 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... |
ORPHA:199302 |
| Schinzel-Giedion Syndrome |
|
Short neck, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, High palate, Choanal ... |
ORPHA:798 |
| Limb-Mammary Syndrome |
|
Absent nipple, Psoriasiform dermatitis, Cleft hard palate, Cleft lip, Cleft palate, Bilateral bre... |
ORPHA:69085 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Prominent nasal bridge, Short stature, Broad nasal tip, P... |
OMIM:223370 |
| Tolchin-Le Caignec Syndrome |
|
Diastasis recti, Prominent nose, Submucous cleft hard palate, Wide nasal bridge, Cardiac rhabdomy... |
OMIM:618971 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Elevated hepa... |
ORPHA:99845 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Asplenia, Flexio... |
ORPHA:261537 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Acute pancreatitis, Elevated circulating aspartate a... |
ORPHA:466677 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Bulbous nose, Aortopulmo... |
OMIM:620025 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Proportionate short stature, Dehydration, Hypovolemic shock, Arrhythmia, Cholelithiasis, Recurren... |
ORPHA:171876 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia, Intrauterine gro... |
ORPHA:3035 |
| Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Short neck, Hydrocephalus, Pulmonary hypoplasia, Disproportionate short-limb shor... |
OMIM:187600 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... |
ORPHA:892 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Asplenia, Flexio... |
ORPHA:2152 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intestinal malrotation, Congenital dia... |
ORPHA:2140 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Polyhydramnios, Short neck, High palate, Wrist flexion contracture, Purs... |
ORPHA:800 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Lymphedema, Flexion contracture, Atrial septal defect, Agenesis of p... |
ORPHA:536471 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Tetraamelia Syndrome 1 |
|
Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Hydrocephalus, Singl... |
OMIM:273395 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip, Aminoaciduria, Hypoplastic nipples, Arrhythmia |
OMIM:273400 |
| Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Spina bifida, Lymphedema, Cryptorchidism, Raynaud phenomenon, Unilateral renal ... |
ORPHA:2874 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Mowat-Wilson Syndrome |
|
Widely spaced teeth, Atrial septal defect, Hypospadias, Pulmonary artery sling, Short stature, Cr... |
OMIM:235730 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia,... |
OMIM:620306 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, Cleft pa... |
ORPHA:2250 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Polyhydramnios, Short neck, Deep philtrum, Flexion contracture, Short... |
ORPHA:96334 |
| Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Thin upper lip vermilion, Rhizomelia, Polyhydramnios, Short neck, Elbow f... |
ORPHA:56304 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Abnormal lung lobation, Orofacial c... |
OMIM:607872 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Asplenia, Flexio... |
ORPHA:261552 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Edema, Myocardial inf... |
ORPHA:221 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of finger, High, narrow pal... |
ORPHA:2554 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Depressed nasal bridge, Hydrocephalus, Wide mouth, Cerebral ischemia,... |
ORPHA:60040 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Median cleft lip and palate, Proboscis, Alobar holoprosencephaly, Subm... |
OMIM:157170 |
| Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Facial palsy, Choanal atresia, Abno... |
ORPHA:2658 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Short stature, Arrhythmia |
OMIM:616298 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Charge Syndrome |
|
Polyhydramnios, Aqueductal stenosis, Holoprosencephaly, Vesicoureteral reflux, Micropenis, Depres... |
ORPHA:138 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Facial palsy, Limb muscle weakness, Left bundle branch block, Abno... |
OMIM:610131 |
| Acrorenal-Mandibular Syndrome |
|
Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Abnormality of the ure... |
OMIM:200980 |
| Stickler Syndrome |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Anteverted nares, Depressed nasal brid... |
ORPHA:828 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Polyhydramnios, Facial edema, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Intrauter... |
ORPHA:86822 |
| Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism |
ORPHA:624 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... |
ORPHA:100050 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Colchicine Poisoning |
|
Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, Dehydration, H... |
ORPHA:31824 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Epispadias, Abnormality of the anus, Abnormal penis morphology, ... |
ORPHA:2556 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Abnormality of the nose, Raynaud phenomenon, Abnormality of the dentitio... |
ORPHA:90289 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Cryptorchid... |
ORPHA:3412 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan... |
OMIM:208500 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Slender nose, Proteinuria, Short stature, Delayed eruption ... |
OMIM:216400 |
| Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, Ur... |
ORPHA:2052 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Depressed nasal bridge, Rhizomelia, Polyhydramnios, Short neck, Stillbirth, Pulmonary hypoplasia,... |
OMIM:151210 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Proteinuria, Pulmonary hypoplasia, Oligohydramnios |
OMIM:191830 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Protruding tongue, Rhizome... |
ORPHA:50945 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Renal Tubular Dysgenesis |
|
Anuria, Pulmonary hypoplasia, Hypotension, Oligohydramnios |
OMIM:267430 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice... |
ORPHA:509 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Arrhythmia, Mildly reduced left ventricular ejection fraction |
OMIM:618098 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pul... |
OMIM:619351 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Flexion contracture, Dentinogenesis imperfecta, Short stature, Rhizo... |
ORPHA:666 |
| Greenberg Dysplasia |
|
Hepatomegaly, Depressed nasal bridge, Nonimmune hydrops fetalis, Polyhydramnios, Rhizomelia, Larg... |
OMIM:215140 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Botulism |
|
Urinary retention, Xerostomia, Arrhythmia |
ORPHA:1267 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism... |
ORPHA:94093 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... |
ORPHA:682 |
| Cockayne Syndrome B |
|
Slender nose, Renal insufficiency, Severe short stature, Proteinuria, Prominent nasal bridge, Del... |
OMIM:133540 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
| Foodborne Botulism |
|
Urinary retention, Xerostomia, Arrhythmia |
ORPHA:228371 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Depressed nasal bridge, Short neck, Postnatal growth retardation, Cryp... |
ORPHA:3404 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Hyperten... |
ORPHA:139411 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Abnormal dental morphology, Abnormal nasal morphology, Deep philtrum, Long philtrum, Abnormal nos... |
ORPHA:2878 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Short stature, Camptodactyl... |
OMIM:256040 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Ventricu... |
OMIM:606170 |
| Lyme Disease |
|
Joint swelling, Arrhythmia, Atrioventricular block |
ORPHA:91546 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Arrhythmia |
OMIM:620208 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Achondroplasia |
|
Depressed nasal bridge, Rhizomelia, Polyhydramnios, Hydrocephalus, Choanal stenosis, Pulmonary hy... |
OMIM:100800 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Exaggerated cupid's bow, Cardiac conduction abnormality, Dehydration, Downturne... |
ORPHA:2131 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormality of taste sensation, Facial palsy, Pneumonia, Respiratory tract i... |
ORPHA:68 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... |
OMIM:619708 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Splenomeg... |
ORPHA:163746 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Ketonuria, Acute rhabdomyolys... |
ORPHA:480864 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Severe short stature, Prominent nose, Long nose, Cryptorchidism, Bulbous nose, Submu... |
ORPHA:2636 |
| Plague |
|
Hepatomegaly, Tachycardia, Chapped lip, Edema, Hematemesis, Splenomegaly, Enterocolitis, Endocard... |
ORPHA:707 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon |
ORPHA:2151 |
| Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Tented upper lip vermilion, Congenital diaphragmatic hernia, Short n... |
OMIM:601803 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Short stature, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the den... |
ORPHA:3220 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Edema, Cryptorchidism, Pedal edema, Rectovaginal fistula, Pul... |
OMIM:236700 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac ... |
ORPHA:906 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Polyhydramnios, Shor... |
OMIM:617360 |
| Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi... |
OMIM:309800 |
| Ulnar-Mammary Syndrome |
|
Anal stenosis, Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypopla... |
OMIM:181450 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... |
ORPHA:93317 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Neuroocular Syndrome |
|
Scapular winging, Short stature, Short uvula, Submucous cleft hard palate, Downturned corners of ... |
OMIM:619539 |
| Leber Optic Atrophy |
|
Myopathy, Arrhythmia |
OMIM:535000 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Short neck, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Anal atresia, Oligohydramnios |
OMIM:271520 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Renal insufficiency, Hepatomegaly, Urinary incontinence, Myocarditis,... |
ORPHA:3385 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Arrhythmia, Short stature, Long philtrum |
OMIM:171480 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Depressed nasal bridge, Rhizomelia, Short neck, Myocarditis, Disproportionate short stature, Atri... |
OMIM:250220 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Ivic Syndrome |
|
Arrhythmia, Severe short stature, Rectovaginal fistula, Anal atresia |
ORPHA:2307 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Hypoplasia of f... |
OMIM:164210 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Flexion contracture, Intracra... |
ORPHA:86309 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Single naris, Renal cyst, Pulmonary hypoplasia |
OMIM:615636 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Malabsorption, Abnormality of the dentition, Abnormality of the gingiva, Aplasia/Hypoplasia of th... |
ORPHA:285 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Inflammation of the large intestine, Psoriasiform dermatitis, Arrhythmia |
OMIM:106300 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hypermagnesi... |
ORPHA:428 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia, Oligohydramnios, Persistent cloaca |
ORPHA:1112 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
