| Meckel Syndrome, Type 8 |
|
Encephalocele, Polycystic kidney dysplasia, Enlarged kidney, Short neck, Short nose, Occipital en... |
OMIM:613885 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy... |
OMIM:115197 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart |
ORPHA:3283 |
| Choanal Atresia And Lymphedema |
|
Choanal atresia, High palate, Lymphedema, Pericardial effusion |
OMIM:613611 |
| Nephrosialidosis |
|
Renal insufficiency, Nephropathy, Nephrotic syndrome, Pericardial effusion, Ascites |
OMIM:256150 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Depressed nasal bridge, Edema, Short neck, Short... |
OMIM:608776 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Anasarca, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... |
OMIM:614702 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Micropenis, Upturned corners of mouth, Perianal abscess, Long philtrum, Pericardi... |
OMIM:614684 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Abnormality of the peritoneum, Pericardial effusion |
ORPHA:48686 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... |
ORPHA:300751 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... |
ORPHA:2414 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... |
ORPHA:1041 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Cantu Syndrome |
|
Depressed nasal bridge, Short neck, Umbilical hernia, Anteverted nares, Bicuspid aortic valve, Co... |
OMIM:239850 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Oligodontia, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Protein-losing en... |
OMIM:235510 |
| Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Ventricular septal defect, Prominent median palatal raphe, Persistent fetal... |
ORPHA:363705 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Recurrent sinopulmonary infections, Nasal congestion, Atrial situs ambigu... |
ORPHA:244 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
High palate, Limb hypertonia, Atrial septal defect, Polyhydramnios, Urinary incontinence, Short s... |
OMIM:620070 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... |
OMIM:181350 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Jaundice, Anteriorly placed anus, Tachy... |
ORPHA:26793 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Neonatal death,... |
OMIM:615524 |
| Pai Syndrome |
|
Encephalocele, Midline defect of the nose, Bifid uvula, Nasal polyposis, Cleft palate, Abnormal o... |
ORPHA:1993 |
| Gaucher Disease Type 1 |
|
Delayed puberty, Pulmonary arterial hypertension, Proteinuria, Gingival bleeding, Biliary tract o... |
ORPHA:77259 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Alkuraya-Kucinskas Syndrome |
|
Camptodactyly, High palate, Arthrogryposis multiplex congenita, Micropenis, Edema, Hydrocephalus,... |
OMIM:617822 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Ventricular septal defect... |
OMIM:616037 |
| Alg9-Cdg |
|
Enlarged kidney, Ventricular septal defect, Atrial septal defect, Bifid uvula, Rhizomelia, Hypopl... |
ORPHA:79328 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the nose, Esophageal neoplasm, Nasal polyposis, Abnormality o... |
ORPHA:2869 |
| Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Int... |
ORPHA:555874 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Lower limb hypertonia, Hepatosplenomegaly, Proteinuria, Micrope... |
OMIM:619487 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Proteinuria, Endocarditis, Tubuloin... |
ORPHA:183 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Hypocomplementemic Urticarial Vasculitis |
|
Proteinuria, Small vessel vasculitis, Angioedema, Renal insufficiency, Abnormal heart valve morph... |
ORPHA:36412 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Abnormal heart morphology, Facial cleft |
OMIM:239800 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Mosaic Trisomy 9 |
|
Hydronephrosis, Dextrocardia, Asplenia, Ventricular septal defect, Spina bifida, Atrial septal de... |
ORPHA:99776 |
| Unilateral Ocular Duplication |
|
Encephalocele, Polyhydramnios, Midline facial cleft |
ORPHA:3374 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
High palate, Alpha-aminoadipic aciduria, Cardiomyopathy, Skeletal muscle atrophy, Elevated urine ... |
OMIM:620089 |
| Polyvalvular Heart Disease Syndrome |
|
High palate, Pulmonic stenosis, Arrhythmia, Abnormal heart valve morphology, Short stature, Tricu... |
ORPHA:228410 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Nasal polyposis, Chronic ... |
OMIM:615444 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele, Facial cleft |
OMIM:601357 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Persistent feta... |
OMIM:618775 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypertens... |
ORPHA:79126 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Tetralogy of Fallot, Ventricular s... |
OMIM:618280 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Cardiomyopathy,... |
OMIM:619003 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Br... |
OMIM:614935 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Nasal polyposis, Chronic rhinitis, Abdominal situs ambiguus, Recurrent pn... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 5 |
|
Situs inversus totalis, Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Ch... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Nasal polyposis, Bronchie... |
OMIM:606763 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorchidism, Arrhythmia, Intraut... |
ORPHA:1194 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Malabsorption, Abnormal pleura morphology, Hepatomegaly, Psoriasiform dermatitis,... |
ORPHA:92 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Cryptorchidism, Micropenis, Prominent nasal bridge, Pulmonary hypoplas... |
OMIM:300978 |
| Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Recurrent respiratory infections, Abnormal axonemal organization of respi... |
OMIM:613808 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Short neck, Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertro... |
OMIM:300696 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... |
OMIM:620236 |
| Congenital Enterovirus Infection |
|
Myocarditis, Hypotension, Hydrops fetalis, Cholestasis, Polyhydramnios, Cardiomyopathy, Fetal asc... |
ORPHA:292 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Lipoid Proteinosis |
|
Recurrent respiratory infections, High palate, Nasal polyposis, Abnormal oral mucosa morphology, ... |
ORPHA:530 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Tooth agenesis, Horseshoe kidney, Malabsorption, Narrow mouth, Supernume... |
ORPHA:2136 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula, Nasal polyposis |
OMIM:155145 |
| Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... |
ORPHA:75566 |
| Nathalie Syndrome |
|
Arrhythmia, Short stature |
ORPHA:2663 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Webbed neck, Micropenis, Ventricular septal defect, Short neck, Hydrops fetalis, ... |
OMIM:616897 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nonimmune hydrops fetalis, Proteinuria, Edema, Renal cyst, Steatorrhea, Cardiomyopathy, Villous a... |
OMIM:212065 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Pulmonary hypoplas... |
OMIM:616733 |
| Short Rib-Polydactyly Syndrome |
|
Situs inversus totalis, Polycystic kidney dysplasia, Increased nuchal translucency, Edema, Abnorm... |
ORPHA:1505 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Recurr... |
OMIM:620197 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Q Fever |
|
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Abnormality of the liver, Abnormal hea... |
ORPHA:781 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Atelectasis, Nasal polyposis, Communicating hydrocephalus, Asplenia, Chro... |
OMIM:244400 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Neonatal death, Congestive hear... |
OMIM:614096 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Polyhydramnios, Pulmonary hypoplasia, Abnormal biliary trac... |
ORPHA:3032 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Nonimmune hydrops fetalis, Hypoplastic spleen, Right atrial enlargement... |
OMIM:619313 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Proteinuria, Edema, Nephritis, Renal insufficiency, Nephrotic syndrome, Peric... |
ORPHA:93552 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Hematuria, Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Proteinuria, Delayed puberty, ... |
ORPHA:77261 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic tricuspid valve, High palate, Dysplastic pulmonary valve, Anteriorly placed anus, Atri... |
OMIM:612863 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Intrauterine growth retardation, Congestive heart failure, Dilated cardiomyopathy, Hy... |
OMIM:616198 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... |
OMIM:611705 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Multiple re... |
ORPHA:464329 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Increased nuchal translucency, Intrauterine growth retardation, Ch... |
OMIM:620183 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Depressed nasal bridge, Hypoplastic left heart, Pulmonic stenosis, Tetr... |
ORPHA:3426 |
| Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Bifid uvula, Tetralogy of Fallot, Accessory oral frenulum, Aganglion... |
ORPHA:2919 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Smooth philtrum, Patent for... |
OMIM:618316 |
| Cirrhotic Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Hepatomegaly, Third heart sound, Left ventricular hyp... |
ORPHA:57777 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Bronchiectasis, Pericardial effusion, Pneumothorax |
ORPHA:411703 |
| Multiple Pterygium Syndrome, X-Linked |
|
Depressed nasal ridge, Edema, Polyhydramnios, Pulmonary hypoplasia, Intrauterine growth retardati... |
OMIM:312150 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Asplenia, Cholestasis, Pulmonary hypo... |
OMIM:615415 |
| Acrofacial Dysostosis, Catania Type |
|
Short nose, Intrauterine growth retardation, Short stature, Spina bifida occulta, Hypospadias, Fa... |
ORPHA:1786 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Interlobular septal thickening,... |
ORPHA:199241 |
| Oculomaxillofacial Dysostosis |
|
Short stature, Wide nasal bridge, Facial cleft |
ORPHA:1794 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... |
OMIM:608751 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Peritoneal effusion, Pericardial effusion, Growth delay, Pleural effusion, Intestinal lymp... |
ORPHA:90362 |
| Frontonasal Dysplasia 3 |
|
Wide nasal bridge, Facial cleft |
OMIM:613456 |
| Aymé-Gripp Syndrome |
|
Proteinuria, Camptodactyly, Oligodontia, Cryptorchidism, Depressed nasal bridge, Hydrocephalus, B... |
ORPHA:1272 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Polyhydramnios, Pulmonary hypoplasia, Multiple renal cysts, Nephropathy, Pro... |
ORPHA:3033 |
| Hardikar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hydroureter, Unilateral cleft lip, Cholestasis, ... |
OMIM:301068 |
| Lymphoproliferative Syndrome 1 |
|
Stomatitis, Hepatomegaly, Pericardial effusion, Pleural effusion, Splenomegaly |
OMIM:613011 |
| Lethal Congenital Contracture Syndrome 11 |
|
Camptodactyly, Distal arthrogryposis, Polyhydramnios, Pulmonary hypoplasia, Intrauterine growth r... |
OMIM:617194 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Renal cyst, Hydranencephaly, Pulmonary hypoplasia, Neonatal death, Stillbirth, Anteve... |
OMIM:236500 |
| Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Growth delay, Abnormal penis ... |
ORPHA:139466 |
| Maternally-Inherited Diabetes And Deafness |
|
Proteinuria, Malabsorption, Arrhythmia, Renal insufficiency, Hypertension, Congestive heart failu... |
ORPHA:225 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Anteverted nares, Hypertrophic cardiomyopathy, Increased variabil... |
OMIM:617228 |
| Burn-Mckeown Syndrome |
|
Bilateral choanal atresia/stenosis, Prominent nasal bridge, Bifid uvula, Atrial septal defect, Hy... |
OMIM:608572 |
| Marden-Walker Syndrome |
|
Camptodactyly, Dextrocardia, High palate, Micropenis, Pyloric stenosis, Short neck, Decreased mus... |
OMIM:248700 |
| 1Q41Q42 Microdeletion Syndrome |
|
Broad nasal tip, Cryptorchidism, Pulmonary hypoplasia, Submucous cleft hard palate, Holoprosencep... |
ORPHA:250999 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Wide nasal bridge, Midline facial cleft |
OMIM:603671 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... |
ORPHA:45453 |
| Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Edema, Limb hypertonia, Hypertension, Recurrent lower respiratory tract... |
OMIM:615846 |
| Pentalogy Of Cantrell |
|
Encephalocele, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Pulmonary hy... |
ORPHA:1335 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Shoulder girdle muscle ... |
ORPHA:263297 |
| Cystic Fibrosis |
|
Hepatosplenomegaly, Dehydration, Ileus, Nasal polyposis, Steatorrhea, Pancreatitis, Meconium ileu... |
OMIM:219700 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Anasarca, Polyhydramnios, Protein-losing enteropathy, Elevated circ... |
OMIM:618183 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Short nose, Short stature, Facial cleft |
ORPHA:1791 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Hepatomegaly, Acute pancreatitis, Bundle branch block, Bradycardi... |
ORPHA:99827 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Camptodactyly, Abnormality of the dentition, Broad nasal tip, Short nose, Short stature, Antevert... |
OMIM:618529 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Proteinuria, Arrhythmia, Renal insufficiency, Nephropathy, Hepatomegaly, Nephrotic ... |
ORPHA:330001 |
| Oculofaciocardiodental Syndrome |
|
Intestinal malrotation, Oligodontia, Tooth malposition, Abnormal palate morphology, Abnormality o... |
ORPHA:2712 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pulmonic stenosis, Arrhythmia, Short nose, Paroxysmal supraventricular tachycardia, ... |
OMIM:617877 |
| Alg3-Cdg |
|
Macroglossia, High palate, Pulmonary hypoplasia, Cardiomyopathy, Abnormality of the nose, Abnorma... |
ORPHA:79321 |
| Al Amyloidosis |
|
Reduced left ventricular ejection fraction, Monoclonal light chain cardiac amyloidosis, Albuminur... |
ORPHA:85443 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Depressed nasal ridge, Edema, Polyhydramnios, Pulmonary hypoplasia, Intrauterine growth retardati... |
OMIM:253290 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Bifid uvula, Atrial septal defect, Submucous cleft har... |
OMIM:617660 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Recurrent respiratory infections, Mitral regurgitation, Left atria... |
ORPHA:75249 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
| Sick Sinus Syndrome 2 |
|
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Oligodontia, Renal tubular dysfunction, Abnormal T-wave, Torsade de point... |
ORPHA:37553 |
| Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ... |
ORPHA:437572 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Broad nasal tip, Cryptorchidism, Ventricular septal defect, Supernumerary nipple, Pu... |
OMIM:612530 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Short neck, Polyhydramnios, Pulmonary hypoplasia, Underdeveloped nas... |
OMIM:263210 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block |
ORPHA:1479 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
| Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Minicore myopathy, Hydrops fetalis, Muscular dystr... |
OMIM:255320 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Aglossia, Polyhydramnios, Pulmonary hypopl... |
OMIM:202650 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft |
ORPHA:1104 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
| Pallister-Hall-Like Syndrome |
|
Micropenis, Hydrocephalus, Pulmonary hypoplasia, Occipital encephalocele, Short nose, Short statu... |
OMIM:241800 |
| Acrofacial Dysostosis, Weyers Type |
|
Mild short stature, Facial cleft |
ORPHA:952 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole... |
OMIM:208540 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... |
ORPHA:1345 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hepatic calcification, Sudden cardiac... |
ORPHA:73224 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... |
OMIM:612098 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Camptodactyly, High palate, Distal arthrogryposis, Pulmonary hypoplasia, Knee flexion contracture... |
OMIM:617468 |
| Peutz-Jeghers Syndrome |
|
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Nasal polyposis, Neoplasm ... |
OMIM:175200 |
| Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, Pulmonary hypoplasi... |
ORPHA:2847 |
| Myhre Syndrome |
|
Camptodactyly, Cryptorchidism, Prominent nasal bridge, Atrial septal defect, Ventricular septal d... |
OMIM:139210 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Camptodactyly, Oligodontia, Abnormality of the dentition, Micropenis, Cryptorchidism, Umbilical h... |
OMIM:616331 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Camptodactyly, Short stature |
OMIM:618453 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, High palate, Arthrogryposis multiplex congenita, Spinal muscular a... |
OMIM:616866 |
| Immunodeficiency 13 |
|
Nasal polyposis, Bronchiolitis obliterans organizing pneumonia, Recurrent pneumonia, Bronchiectas... |
OMIM:615518 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Facial cleft |
OMIM:607597 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Long nose, Oligodontia, Prominent nasal bridge, Atrial septal defect, Misalignment of incisors, A... |
OMIM:619184 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney, Multilobu... |
OMIM:601186 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Ventricular septal defect, Cleft lip, Pulmonary hypopla... |
OMIM:611812 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Facial cleft |
ORPHA:66625 |
| Long Qt Syndrome 15 |
|
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Myopathy, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Scapular winging, ... |
OMIM:612999 |
| Sarcoidosis |
|
Nephrocalcinosis, Hepatomegaly, Pneumothorax, Decreased liver function, Abnormal nasal mucosa mor... |
ORPHA:797 |
| Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Hypoplasia of the thymus, High palate, Torticollis, Ventricular septal defect, Shor... |
OMIM:617022 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Premature loss of teeth, Tooth malposition, Cryptorchidism, Umbilical hernia, Narrow... |
ORPHA:536532 |
| 19P13.12 Microdeletion Syndrome |
|
Cryptorchidism, Mitral regurgitation, Atrial septal defect, Ventricular septal defect, Arrhythmia... |
ORPHA:254346 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Inflammation of the large intestine, Abnormal salivary gland mor... |
OMIM:181000 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Hepatom... |
ORPHA:422 |
| Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Ventricular septal defect, Median cleft lip and palate, Hypoplastic nipples, Hepatom... |
OMIM:269860 |
| Loeys-Dietz Syndrome 5 |
|
High palate, Mitral regurgitation, Prominent nasal bridge, Bifid uvula, Atrial septal defect, Ven... |
OMIM:615582 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... |
ORPHA:216694 |
| Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Testicular atrophy, Arrhythmia, Cardiomyopathy, Hepatomegaly, Elevated ... |
OMIM:235200 |
| Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Congestive heart failure, Dilated cardiomyop... |
OMIM:602390 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture, Absent uvul... |
OMIM:616531 |
| Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Organic aciduria |
ORPHA:35 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Choanal atresia, Camptodactyly, Cryptorchidism, Irregular dentition, P... |
OMIM:619148 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Chronic rhinitis, Bronchiectasis, Pneumonia, Recurrent sinusitis |
OMIM:618695 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... |
OMIM:540000 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Atelectasis, Renal angiomyolipoma, Hydr... |
ORPHA:538 |
| Orofaciodigital Syndrome Xix |
|
High palate, Bifid nasal tip, Underdeveloped nasal alae, Tongue nodules, Accessory oral frenulum,... |
OMIM:620107 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Esophageal atresia, Dextrocardia, Anal atresia, Enlarged kidney, Hydrocephalus, A... |
OMIM:314390 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Camptodactyly, Anal atresia, Abnormality of the dentition, Micropenis, Atrial septal d... |
ORPHA:363444 |
| Czeizel-Losonci Syndrome |
|
Hydronephrosis, High palate, Dextrocardia, Aplasia of the left hemidiaphragm, Hydrocephalus, Spin... |
ORPHA:2437 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Oligodontia, Ventricular septal defect, Cleft palate, Microglossia, Smooth philtrum, Intrauterine... |
OMIM:608670 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Bacterial endocarditis, Ventricul... |
ORPHA:3092 |
| Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Bifid uvula, Ventricular septal defect, Chronic hepatitis, Hepatomegaly, Cleft p... |
OMIM:614921 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Short neck, Arrhythmia, Microdontia, Subvalvular aortic stenosis, Memb... |
ORPHA:3191 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy |
ORPHA:104 |
| Gitelman Syndrome |
|
Delayed puberty, Decreased urinary potassium, Renal potassium wasting, Abnormal T-wave, Proteinur... |
ORPHA:358 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Pulmonary hypoplasia, Cleft palate, Thin vermilion border, Abnormal lung... |
ORPHA:2631 |
| Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Hydrocephalus, Heart block, Arrhythmia, Cho... |
ORPHA:398124 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Arrhythmia, Submucous cleft hard palate, Short stature, High, narrow pal... |
ORPHA:3201 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Paroxysmal atrial fibrillation, Reduced left ventricular ... |
ORPHA:1677 |
| Congenital Hypothyroidism |
|
Macroglossia, Goiter, Thyroid dysgenesis, Hypotension, Arrhythmia, Umbilical hernia, Hypertension... |
ORPHA:442 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Hepatic cysts, Pulmonary hypoplasia, ... |
OMIM:263200 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Recurrent respiratory infections, Dextrocardia, Ureteral stenosis,... |
ORPHA:2257 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Arrhythmia, Cardiomyopathy, Nephropathy, Atrioventricular block, Cardi... |
ORPHA:85447 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Depressed nasal tip, Abnormal preputium morphology, Thick nasal alae, Smooth philtrum, Glandular ... |
ORPHA:293725 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Edema, Increased circulating prolactin concentration, Pericardia... |
ORPHA:2905 |
| Fryns Syndrome |
|
Tetralogy of Fallot, Cleft palate, Multicystic kidney dysplasia, Hydronephrosis, Cryptorchidism, ... |
ORPHA:2059 |
| Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... |
ORPHA:34217 |
| Coffin-Siris Syndrome 11 |
|
Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Bulbous nose, Cleft so... |
OMIM:618779 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Tetralogy of Fallot, Short nose, Submucous cleft hard palate, Lobar holoprosencephaly, Short stat... |
OMIM:614701 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Dysplastic pulmonary valve, Ventricular septal defect, Horseshoe kidney, Unilater... |
OMIM:619103 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Hydrops fetalis, Arrhythmia, Supraventr... |
ORPHA:45452 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Cryptorchidism, Micropenis, Sh... |
ORPHA:2282 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Duodenal atresia, Unilateral renal agenesis, Submucous cleft hard palate, Sho... |
OMIM:619227 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Cryptorchidism, Intestinal hypoplasia, Depressed nasal bridge, Polyhydra... |
ORPHA:994 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
| Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
| Noonan Syndrome 5 |
|
Depressed nasal bridge, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Short neck, Arrh... |
OMIM:611553 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, High palate, Agenesis of permanent teeth, Hydrops fetalis, Renal cys... |
OMIM:614091 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Atrioventricular canal defect, Abnormal mitral valve morphol... |
ORPHA:500 |
| Diaphanospondylodysostosis |
|
Increased nuchal translucency, Depressed nasal bridge, Enlarged kidney, Short neck, Horseshoe kid... |
OMIM:608022 |
| Thanatophoric Dysplasia |
|
Increased nuchal translucency, Hydrocephalus, Atrial septal defect, Polyhydramnios, Pulmonary hyp... |
ORPHA:2655 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Mitral regurgitation, Hypoplastic left heart, Bacterial endocar... |
ORPHA:1330 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Atrial septal defect, Smooth philtrum, Cleft soft palate, Facial hypotonia |
OMIM:614526 |
| Constricting Bands, Congenital |
|
Encephalocele, Bladder exstrophy, Ectopia cordis, Facial cleft |
OMIM:217100 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Syncope, Submucous cleft hard palate, Premature ventricular contraction, Posteriorly placed tongu... |
OMIM:192445 |
| Ogden Syndrome |
|
Torticollis, Cryptorchidism, Postnatal growth retardation, Ventricular septal defect, Arrhythmia,... |
ORPHA:276432 |
| 3Mc Syndrome 3 |
|
Penoscrotal hypospadias, Micropenis, Horseshoe kidney, Short stature, Growth delay, Facial cleft |
OMIM:248340 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Antenatal intracerebral hemorrhage, Enlarged kidney, Hepatomegaly, N... |
OMIM:608836 |
| Buratti-Harel Syndrome |
|
High palate, Cryptorchidism, Bifid uvula, Atrial septal defect, Submucous cleft hard palate, Recu... |
OMIM:619314 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Nonimmune hydrops fetalis, Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Anteverted nares |
OMIM:613124 |
| Cardiac Diverticulum |
|
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1686 |
| Cerebrocostomandibular Syndrome |
|
High palate, Anteriorly placed anus, Postnatal growth retardation, Atrial septal defect, Ventricu... |
OMIM:117650 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence ... |
OMIM:602088 |
| Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
| Chédiak-Higashi Syndrome |
|
Hepatosplenomegaly, Recurrent respiratory infections, Jaundice, Gingival bleeding, Edema, Atrophy... |
ORPHA:167 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Severe short stature, Hydrops fetalis, Short neck, Hydrocephalus, ... |
ORPHA:1865 |
| Polymyositis |
|
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Hepatomegaly, Pulmonary fibrosis, Hyper... |
ORPHA:732 |
| Meckel Syndrome, Type 6 |
|
Renal cyst, Horseshoe kidney, Hydrocephalus, Pulmonary hypoplasia, Occipital encephalocele, Bile ... |
OMIM:612284 |
| Rheumatic Fever |
|
Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endocarditis, Arrhythmia, Abno... |
ORPHA:3099 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Nonimmune hydrops fetalis, Open mouth, Depressed nasal bridge, Polyhydramnios... |
OMIM:608013 |
| Hydrolethalus |
|
Cryptorchidism, Bifid uvula, Unilateral cleft lip, Hydrocephalus, Polyhydramnios, Submucous cleft... |
ORPHA:2189 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Abn... |
ORPHA:185 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Spinal muscular atrophy, Polyhydramnios, Pulmonary hypoplasia, Skeletal muscle atrophy, Patent fo... |
OMIM:616867 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Hydrops fetalis, Facial cleft |
ORPHA:268249 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycystic kidney dysplasia, Enlarged kidney, Ventricular septal d... |
OMIM:300855 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdo... |
ORPHA:3309 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Arrhythm... |
OMIM:249270 |
| Absence Of The Pulmonary Artery |
|
Reduced left ventricular ejection fraction, Tetralogy of Fallot, Atrial septal defect, Abnormal h... |
ORPHA:980 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Elevated hepatic transaminase, Sudden cardiac ... |
ORPHA:156 |
| Distal Triplication 15Q |
|
Polycystic kidney dysplasia, Camptodactyly, Hydronephrosis, High palate, Atrial septal defect, Ho... |
ORPHA:314588 |
| Myhre Syndrome |
|
Cryptorchidism, Abnormal lip morphology, Severe short stature, Bifid uvula, Unilateral cleft lip,... |
ORPHA:2588 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventri... |
OMIM:608149 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polycystic kidney dysplasia, Micropenis, Short neck, Hydrops fetalis, Atrial septal defect, Pulmo... |
OMIM:616546 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary artery dilatation, Recurrent respiratory ... |
ORPHA:99106 |
| Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Webbed neck, Hydronephrosis, Pulmonic stenosis... |
OMIM:115150 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Broad nasal tip, Rhizomelia, Knee flexion contracture, Cleft hard palate, Short stature |
ORPHA:166016 |
| Mosaic Trisomy 1 |
|
Increased nuchal translucency, Pulmonary artery atresia, Camptodactyly of finger, Renal cortical ... |
ORPHA:1692 |
| Amish Lethal Microcephaly |
|
Spina bifida, Limb hypertonia, Hepatomegaly, Cleft soft palate, Organic aciduria |
ORPHA:99742 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... |
ORPHA:66529 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia, Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricul... |
OMIM:619167 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Rhabdomyolysis, Myopathy, Arrhythmia, Cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase... |
ORPHA:228305 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polycystic kidney dysplasia, Tubulointerstitial nephritis, Hydrocephalus, Heart block, Arrhythmia... |
ORPHA:228308 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Tetralogy of Fallot, Rhizomelia, Submucous cleft hard palate, Anteverted nares, Wide... |
OMIM:222765 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Short nose, Short stature,... |
OMIM:145420 |
| Dystonia 23 |
|
Arrhythmia, Torticollis |
OMIM:614860 |
| Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Open mouth, Cryptorchidism, Tetralogy of Fallot, Ventricular septal def... |
OMIM:192430 |
| Oculocerebrocutaneous Syndrome |
|
Facial cleft |
ORPHA:1647 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia, Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging |
OMIM:310095 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Delayed puberty, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular... |
OMIM:300967 |
| Dk1-Cdg |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Elevated hepatic transamina... |
ORPHA:91131 |
| American Trypanosomiasis |
|
Myocarditis, Edema, Arrhythmia, Cardiomyopathy, Periorbital edema, Hepatomegaly, Aganglionic mega... |
ORPHA:3386 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of toe, Camptodactyly of finger, High palate, Cryptorchidism, Distal arthrogryposis... |
OMIM:114300 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Camptodactyly of finger, Bifid uvula, Ventricular septal defect, Hydroure... |
ORPHA:2461 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Desmosterolosis |
|
Depressed nasal bridge, Severe short stature, Bifid uvula, Hydrocephalus, Short nose, Submucous c... |
ORPHA:35107 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Bifid uvula, Short neck, Polyhydramnios, Cleft hard palate, Submucous cleft har... |
OMIM:300990 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arrhythmia, Skeletal muscle atrophy, Thin skin, Gastrointestinal hemorrhage, Spina bifida occulta... |
ORPHA:230839 |
| Hec Syndrome |
|
Communicating hydrocephalus, Polyhydramnios, Arrhythmia, Cardiomyopathy, Vaginal hydrocele, Endoc... |
ORPHA:2119 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Hydrocephalus, Short nose, Intrau... |
OMIM:619321 |
| Wild Type Abeta2M Amyloidosis |
|
Macroglossia, Abnormality of the thenar eminence, Abnormal tendon morphology, Abnormal intestine ... |
ORPHA:85446 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, Bifid uvula, Submucous cleft hard palate, Cleft palate, High, narrow palate... |
ORPHA:2780 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Recurrent respiratory infections, Hydronephrosis,... |
ORPHA:261494 |
| Meckel Syndrome 14 |
|
Increased nuchal translucency, Polycystic kidney dysplasia, Mitral regurgitation, Short neck, Pul... |
OMIM:619879 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Hepatomegal... |
OMIM:212138 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Nasal polyposis |
OMIM:242670 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Goiter, Elevated circulating growth hormone concentration, Hypotension, Abnormal... |
ORPHA:91347 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis, High palate, Cryptorchidism, Depressed nasal bridge, Pulmonic stenosis, Atrial se... |
ORPHA:1340 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Pulmonary hypoplasia, Cleft palate, Anencephaly, Transposition of the great arteri... |
OMIM:313850 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Contracture of the proximal interphalangeal joint of the 4th toe, Pyloric stenosis, ... |
ORPHA:457279 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Elevated hepa... |
ORPHA:42 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
| Fabry Disease |
|
Delayed puberty, Proteinuria, Left ventricular hypertrophy, Arrhythmia, Renal insufficiency, Hype... |
OMIM:301500 |
| Bartsocas-Papas Syndrome 1 |
|
Micropenis, Ectopic kidney, Short nose, Intrauterine growth retardation, Patent foramen ovale, Fa... |
OMIM:263650 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Arthrogryposis mul... |
ORPHA:2990 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Proteinuria, Dehydration, Stage 5 chronic kidney disease, Decrease... |
ORPHA:2260 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Ventricular septal defect, Choanal atresia, Complete atrioventricular canal... |
OMIM:617063 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Hypotension, Arrhythmia, Renal insufficiency, Pancreatitis, Pulmonary edema, Oliguri... |
ORPHA:188 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydronephrosis, Anal atresia, High palate, Open mouth, Atrial septal defect, Polyhydramnios, Pulm... |
OMIM:614080 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Intrauterine growth retar... |
OMIM:617713 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Polycystic kidney dysplasia, Arrhythmia, Cardiomyopathy, Skeletal muscle atrophy,... |
ORPHA:26791 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydronephrosis, Camptodactyly of finger, Oligodontia, Depressed nasal bridge, Anod... |
ORPHA:90652 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Elevated circulating a... |
OMIM:255120 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... |
OMIM:609040 |
| Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the lungs, Tooth agenesis, Ventricular... |
ORPHA:2162 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Camptodactyly of finger, Short stature, Furrowed tongue |
ORPHA:2928 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cryptorchidism, Arrhythmia, Umbilical hernia, Hypertension, Intrauterine growth retardation, Neon... |
OMIM:614052 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Broad nasal tip, Submucous cleft hard palate, Short stature, Protruding tongue, Dent... |
OMIM:618106 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Nephrocalcinosis, Edema, ... |
ORPHA:51608 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Atrial septal defect, Arrhythmia, Imperforate tricuspid valve, Atrial ... |
ORPHA:1880 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Cryptorchidism, Prominent nasal bridge, Atrial septal defect, Pulmonary hypoplasi... |
ORPHA:85201 |
| Diamond-Blackfan Anemia |
|
Abnormality of the thenar eminence, Nonimmune hydrops fetalis, High palate, Cleft soft palate, De... |
ORPHA:124 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Short neck, Short nose, Short stature, Everted low... |
ORPHA:884 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Broad nasal tip, Ankyloglossia, Widely spaced teeth, Cleft palate, Unilateral renal hypoplasia, T... |
OMIM:619950 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Bifid uvula, Choanal atresia, Cleft palate, Growth delay, Rectovaginal f... |
ORPHA:2753 |
| Tetrasomy 9P |
|
Bifid uvula, Median cleft lip and palate, Horseshoe kidney, Abnormal mitral valve morphology, Mul... |
ORPHA:3310 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal pulmonary valve morphology, Broad nasal tip, Ventricular septal defect, Widely spaced te... |
ORPHA:268261 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Pulmonary hypoplasia, Intrauterine ... |
ORPHA:2470 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Intrauterine growth retardation, Wide nasal bridge, Oligohydramnios, Tessier numbe... |
OMIM:613451 |
| Cleft Velum |
|
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency |
ORPHA:99772 |
| Legionnaires Disease |
|
Myocarditis, Proteinuria, Jaundice, Endocarditis, Hypotension, Arrhythmia, Abnormal pleura morpho... |
ORPHA:549 |
| Microcephaly-Micromelia Syndrome |
|
Short neck, Pulmonary hypoplasia, Aqueductal stenosis, Intrauterine growth retardation, Cleft pal... |
OMIM:251230 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Arthrogryposis multiplex congenita, Depressed nasal ridge, Bifid uvu... |
ORPHA:2671 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Open mouth, Bifid uvula, Submucous cleft hard palate, Short stature, Supernumerary t... |
OMIM:617412 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Arrhythmia, Cardiomyopathy, Congestive heart failure, Anosmia, Cardiom... |
OMIM:266500 |
| Raine Syndrome |
|
Hydroureter, Choanal atresia, Cleft palate, Narrow mouth, Hydronephrosis, Short neck, Hydrocephal... |
OMIM:259775 |
| Atelosteogenesis, Type Ii |
|
Short neck, Pulmonary hypoplasia, Cleft palate, Stillbirth, Depressed nasal bridge |
OMIM:256050 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Cardiomyopathy, Hypertension, Renal insufficiency |
ORPHA:3222 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia, Hypoparathyroidism, Nephropathy, Short stature, Delayed eruption of teeth, ... |
ORPHA:2238 |
| Mosaic Trisomy 16 |
|
Anteriorly placed anus, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Pulmon... |
ORPHA:1708 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... |
OMIM:618920 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroofed coron... |
ORPHA:99104 |
| Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Submucous cleft hard palate, Short stature, Bifid uvula |
OMIM:601492 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia, 3-Methylglutaconic aciduria, Neonatal death |
OMIM:615228 |
| Fryns Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polysplenia, Cleft palate, Cleft upper lip, Join... |
OMIM:229850 |
| Zttk Syndrome |
|
Bifid uvula, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Narrow mouth, Int... |
OMIM:617140 |
| Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Cleft palate, Narrow mouth, Nonimmune hydrops fetalis, Depressed nasal t... |
OMIM:208150 |
| Chromosome 2Q37 Deletion Syndrome |
|
Broad nasal tip, Arrhythmia, Short stature, Subvalvular aortic stenosis, Wide nose, Anteverted na... |
OMIM:600430 |
| Distal Deletion 15Q |
|
Broad nasal tip, Hypoplastic left heart, Cleft palate, Bifid tongue, Multicystic kidney dysplasia... |
ORPHA:1596 |
| Infantile Refsum Disease |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Short stature, Facial palsy |
ORPHA:772 |
| Caudal Regression Syndrome |
|
Anal atresia, Cryptorchidism, Arrhinencephaly, Decreased muscle mass, Abnormality of the ureter, ... |
ORPHA:3027 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Arrhythmia, Weakness of facial musculature, Nephrolithiasis, Dilated cardiomyopathy, Ge... |
ORPHA:352447 |
| Oculodentodigital Dysplasia |
|
High palate, Premature loss of teeth, Selective tooth agenesis, Neurogenic bladder, Atrial septal... |
OMIM:164200 |
| Barth Syndrome |
|
Arrhythmia, Skeletal myopathy, Tricuspid regurgitation, Growth delay, Congestive heart failure, D... |
OMIM:302060 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... |
ORPHA:1055 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Nasal polyposis, Malabsorption, Steatorrhea, Abnormality of the... |
ORPHA:586 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia, Muscular dystrophy, Generalized amyotrophy, Elbow flexion contracture, Joint contracture |
OMIM:616516 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Elevated circulating aspartate aminotransferase concentration, Myopathy, Hydrops ... |
OMIM:609015 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Flexion contracture |
ORPHA:157973 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Testicular atrophy, Joint swelling, Decreased muscle mass, Arrhythmia, ... |
ORPHA:465508 |
| Congenital Myopathy 17 |
|
Hydronephrosis, High palate, Distal arthrogryposis, Myopathy, Polyhydramnios, Pulmonary hypoplasi... |
OMIM:618975 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease, Edema, Abnormal spleen morphology, Arrhythmia, Cardi... |
ORPHA:85448 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
