| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Nathalie Syndrome |
|
Arrhythmia, Cataract |
ORPHA:2663 |
| Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Spastic Paraparesis And Deafness |
|
Tremor, Cataract |
OMIM:312910 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Ascites, Atri... |
OMIM:115197 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Cataract |
OMIM:165300 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Depressed nasal bridge, Wide mouth, Pericardial effusion, Long philtrum, Ascites, E... |
OMIM:608776 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
| Choanal Atresia And Lymphedema |
|
Choanal atresia, High palate, Pericardial effusion, Lymphedema |
OMIM:613611 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Nephrotic syndrome, Nephropathy, Renal insufficiency |
OMIM:256150 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Wide mouth, Pericardial effusion, Long philtrum, Wide nasal bridge, Perianal abscess, Micropenis,... |
OMIM:614684 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cardiomyopathy, Cataract |
OMIM:225740 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Cantu Syndrome |
|
Thick lower lip vermilion, Bicuspid aortic valve, Depressed nasal bridge, Pericardial effusion, L... |
OMIM:239850 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Primary Effusion Lymphoma |
|
Abnormality of the peritoneum, Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Growth delay, Ascites, Pulmonary arterial hypertension, Tricuspid... |
ORPHA:2414 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| Craniofaciofrontodigital Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Short stature, Gastrointestinal hemorrhage, Aortic valve... |
ORPHA:363705 |
| Hydrops Fetalis |
|
Lymphedema, Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, ... |
ORPHA:1041 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Smooth philtrum, Rectal prolapse, Oligodontia, Joint contracture of the hand, Delayed eruption of... |
OMIM:235510 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Depressed nasal bridge, Pericardial effusion, Webbed neck, Edema, Short nose, Arthro... |
OMIM:617822 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Gingival bleeding, Pericardial effusion, Ascites, Growth delay, Biliary tract obstr... |
ORPHA:77259 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Short neck, ... |
OMIM:300696 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Cataract |
ORPHA:401830 |
| Primary Ciliary Dyskinesia |
|
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Situs inversus totalis, Abnormal heart morpho... |
ORPHA:244 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Ciliary Dyskinesia, Primary, 30 |
|
Dextrocardia, Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Absent outer dynein arm... |
OMIM:616037 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... |
ORPHA:26793 |
| Arthrogryposis, Distal, Type 1C |
|
Shoulder flexion contracture, Cleft palate, Hip contracture, High palate, Short stature, Thin ver... |
OMIM:619110 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
| Alg9-Cdg |
|
Smooth philtrum, Hypoplastic nipples, Torticollis, Short nose, Abnormal left ventricular outflow ... |
ORPHA:79328 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, High, narrow palate, Intrauterine growth retardation, Growth delay, Short stature, T... |
ORPHA:2872 |
| Peutz-Jeghers Syndrome |
|
Rectal prolapse, Neoplasm of the rectum, Stomach cancer, Esophageal neoplasm, Abnormality of the ... |
ORPHA:2869 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Burn-Mckeown Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Cleft palate, Underdeveloped nasal alae, Short philt... |
OMIM:608572 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right... |
ORPHA:555874 |
| Pallister-Hall-Like Syndrome |
|
Cleft palate, Depressed nasal bridge, Abnormal heart morphology, Microglossia, Short nose, Microp... |
OMIM:241800 |
| Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
| Aicardi-Goutieres Syndrome 9 |
|
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension... |
OMIM:619487 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Nasal polyp... |
ORPHA:183 |
| Mosaic Trisomy 9 |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Intrauterine growth re... |
ORPHA:99776 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Hypospadias, Hepatomegaly, Intrauterine growth retardation, Wide mou... |
ORPHA:1194 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Hematuria, Splenomegaly, Abnormal heart ... |
ORPHA:36412 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... |
OMIM:181350 |
| Temple Syndrome |
|
High palate, Cleft palate, Short philtrum, Depressed nasal bridge, Short stature, Intrauterine gr... |
OMIM:616222 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormal heart morphology, Ectopic kidney, Facial cleft |
OMIM:239800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Cataract, Pulmonary embolism... |
ORPHA:1345 |
| Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Cataract |
OMIM:278780 |
| Polyvalvular Heart Disease Syndrome |
|
Prominent nose, High palate, Mitral valve prolapse, Short philtrum, Dental crowding, Short statur... |
ORPHA:228410 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Nasal polyp... |
ORPHA:1993 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Depressed nasal bridge, Pericardial effusion, Nephrotic ... |
OMIM:212065 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Limb tremor, Cataract |
OMIM:616647 |
| Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Intrauterine growth retardation, Lacticaciduria, Elevated urinary 4-hy... |
OMIM:619003 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypertension, Pericardial effusion, Bronchiectasis, In... |
ORPHA:79126 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... |
OMIM:615373 |
| Ciliary Dyskinesia, Primary, 19 |
|
Chronic bronchitis, Bronchiectasis, Rhinitis, Situs inversus totalis, Absent inner and outer dyne... |
OMIM:614935 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract |
OMIM:607906 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Hepatomegaly, Pericardial effusion, Malabsorption, Splenomegaly, Abnorma... |
ORPHA:92 |
| Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Bronchiectasis, Rhinitis, Situs inversus totalis, Absent inner and outer dyne... |
OMIM:615444 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Ciliary Dyskinesia, Primary, 2 |
|
Dextrocardia, Bronchiectasis, Situs inversus totalis, Absent inner and outer dynein arms, Recurre... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 35 |
|
Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Recurrent respiratory infections, Nasal... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respir... |
OMIM:613808 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula, Nasal polyposis |
OMIM:155145 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... |
ORPHA:75566 |
| Fryns Microphthalmia Syndrome |
|
Facial cleft, Neural tube defect |
OMIM:600776 |
| Lipoid Proteinosis |
|
Thick lower lip vermilion, High palate, Tongue nodules, Abnormality of the gingiva, Microglossia,... |
ORPHA:530 |
| Congenital Enterovirus Infection |
|
Myocarditis, Fetal ascites, Pericardial effusion, Hepatitis, Cardiomyopathy, Polyhydramnios, Chol... |
ORPHA:292 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Facial cleft |
OMIM:601357 |
| Tonne-Kalscheuer Syndrome |
|
Hypospadias, Prominent nose, Growth delay, Short stature, Abnormal heart morphology, Congenital d... |
OMIM:300978 |
| Triopia |
|
Polyhydramnios, Midline facial cleft |
ORPHA:3374 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Intrauterine growth retardation, Left ventricular hypertrophy, Abnormal renal corti... |
OMIM:616733 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Short Rib-Polydactyly Syndrome |
|
Hypospadias, Intrauterine growth retardation, Hepatic fibrosis, Facial cleft, Abnormal heart morp... |
ORPHA:1505 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Hennekam Syndrome |
|
Pyloric stenosis, Delayed eruption of teeth, Splenomegaly, Camptodactyly of finger, Ectopic kidne... |
ORPHA:2136 |
| Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
| Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Atrial sep... |
OMIM:617300 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Nephrotic syndrome, Myositis, Ascites, Hematuria, Nephritis, Edema, Raynaud... |
ORPHA:93552 |
| Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
| Q Fever |
|
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Pneumonia, Endocarditis, Hematuria... |
ORPHA:781 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Intrauterine growth retarda... |
OMIM:612938 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapuloperoneal myopathy, Scapular wingin... |
OMIM:300695 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Cleft palate, Pierre-Robin sequence, Short stature, Increased hepatic gly... |
OMIM:614921 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Intrauterine growth retardation, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Depressed nasal bridge, Short stature, Long philtrum, Cleft soft palate, Umbilic... |
OMIM:616331 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Hepatomegaly, Truncus arteriosus, Pulmonary ... |
OMIM:615415 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Cleft palate, Hydronephrosis... |
OMIM:616897 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pericardial effusion, Mitral valve calcification, Growth delay, Hematuria, Pulmonar... |
ORPHA:77261 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Drug-Induced Lupus Erythematosus |
|
Hematuria, Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
| Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Pulmonary capillary hemangiomatosis, Interlobula... |
ORPHA:199241 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Subconjunctival hemorrhage, Epistaxi... |
ORPHA:464329 |
| Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Decreased liver functio... |
OMIM:617021 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract |
OMIM:212540 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas, Multicystic kidney dysplasia... |
ORPHA:3032 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Frontonasal Dysplasia 3 |
|
Facial cleft, Wide nasal bridge |
OMIM:613456 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Aymé-Gripp Syndrome |
|
Cleft palate, Pericarditis, Pericardial effusion, Oligodontia, Long philtrum, Depressed nasal bri... |
ORPHA:1272 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Stomatitis, Splenomegaly, Pleural effusion |
OMIM:613011 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Hydranencephaly, Neonatal death, Renal cyst, Arthrogryposis multiplex congenita... |
OMIM:236500 |
| Serkal Syndrome |
|
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Growth delay, Congenital diaph... |
ORPHA:139466 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
| Multiple Pterygium Syndrome, X-Linked |
|
Depressed nasal ridge, Cleft palate, Intrauterine growth retardation, Cleft upper lip, Edema, Pol... |
OMIM:312150 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... |
OMIM:619313 |
| Oculomaxillofacial Dysostosis |
|
Facial cleft, Wide nasal bridge, Short stature |
ORPHA:1794 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Recurrent bronchitis, Bronchiectasis, Si... |
OMIM:244400 |
| Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
| Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... |
ORPHA:263297 |
| Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Intrauterine growth retardation, Facial cleft, Short stature, Short nose, Spina bifi... |
ORPHA:1786 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Pleural effusion, Pericardial effusion, Bronchiectasis |
ORPHA:411703 |
| Emanuel Syndrome |
|
Cleft palate, Truncus arteriosus, Delayed eruption of teeth, Low hanging columella, Micropenis, H... |
ORPHA:96170 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Ventricular septal defect, Cleft palate, Truncus arteriosus, Depressed ... |
ORPHA:3426 |
| Coronary Arterial Fistula |
|
Syncope, Bicuspid aortic valve, Abnormal EKG, Aortic valve stenosis, Abnormal left ventricular fu... |
ORPHA:2041 |
| Facial Clefting, Oblique, 1 |
|
Facial cleft |
OMIM:600251 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Malabsorption, Congestive heart failure, Proteinuria, ... |
ORPHA:225 |
| Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
| Marden-Walker Syndrome |
|
Dextrocardia, Decreased muscle mass, Pyloric stenosis, Cleft palate, High palate, High, narrow pa... |
OMIM:248700 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Polyhydramnios, Oligohydramnios, Tetralogy of Fallot, Multiple renal cysts,... |
ORPHA:3033 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Diffuse al... |
ORPHA:99827 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, Hepatomegaly, High palate, Microdontia, Wide mouth, Hepatic fibrosis, Macrog... |
OMIM:266920 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Ascites, Growth delay, Edema, Intestinal lymphangiectasia, Abnormality of s... |
ORPHA:90362 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Smooth philtrum, Convex nasal ridge, Abnormal lung lobation, Abnormal ... |
OMIM:263210 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Cleft palate, Short stature, Mitral stenosis, Bifid uvula, Hypoplastic left hea... |
OMIM:617660 |
| Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
| Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Growth delay, Mitral regurgitatio... |
OMIM:612561 |
| Alg3-Cdg |
|
High palate, Neural tube defect, Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy... |
ORPHA:79321 |
| Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid va... |
OMIM:612863 |
| Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
| Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
| Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:217607 |
| Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Depressed nasal ridge, Cleft palate, Intrauterine growth retardation, Edema, Polyhydramnios, Hypo... |
OMIM:253290 |
| Cystic Fibrosis |
|
Cor pulmonale, Hepatomegaly, Rectal prolapse, Bronchiectasis, Dehydration, Recurrent bronchopulmo... |
OMIM:219700 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft palate, Cleft upper lip, Bifid uvula, Wide nasal bridge, Dysplastic pulmonary valve, Bulbou... |
OMIM:300958 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Broad nasal tip, Congenital diaphragmatic her... |
OMIM:615524 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Cryptorchidism, Polyur... |
OMIM:618183 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
| Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... |
ORPHA:57777 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent bronchitis, Bronchiectasis, Rhinitis, Respiratory tract infection, Recurrent respirator... |
OMIM:608647 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microdontia, Short stature, Subvalvular aortic stenosis, Anteverted nares, Short neck, Biliary tr... |
ORPHA:3191 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtrum, Torticoll... |
OMIM:617022 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
| Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Renal tubular dysfunction, Ventricular arrhyth... |
ORPHA:37553 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Ventricular septal defect, Smooth philtrum, Depressed nasal bridge, Double outlet ri... |
OMIM:618316 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... |
ORPHA:75249 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft |
ORPHA:1104 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
| Al Amyloidosis |
|
Abnormal cardiac atrium morphology, Gastrointestinal hemorrhage, Abnormal EKG, Monoclonal light c... |
ORPHA:85443 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Nephrocalcinosis, Abnormal r... |
ORPHA:73224 |
| Acrofacial Dysostosis, Weyers Type |
|
Mild short stature, Facial cleft |
ORPHA:952 |
| Frontofacionasal Dysplasia |
|
Short nose, Facial cleft, Short stature |
ORPHA:1791 |
| Myhre Syndrome |
|
Hypertension, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Skeletal ... |
OMIM:139210 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
| Peutz-Jeghers Syndrome |
|
Rectal prolapse, Abnormality of the ureter, Nasal polyposis, Precocious puberty with Sertoli cell... |
OMIM:175200 |
| Pentalogy Of Cantrell |
|
Hypospadias, Ventricular septal defect, Cleft palate, Anencephaly, Congenital diaphragmatic herni... |
ORPHA:1335 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia |
OMIM:614096 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Short stature, Camptodactyly |
OMIM:618453 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Hypodontia, Cleft palate, Misalignment of incisors, Pierre-Robin sequence, Oligodont... |
OMIM:619184 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Meckel diverticulum, Palpitations, Abnormal heart morphology, Congenital d... |
ORPHA:2847 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, High palate, Broad nasal tip, Gingival overgrowth, Bifid uvula, Wide n... |
OMIM:618658 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Mitral valve prolapse, Pericardial effusion, Premature loss of teeth, Webbed neck, T... |
ORPHA:536532 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatomegaly, Esophageal varix, Pulmonary hypoplasia, Pancreatic cysts, Dehydration... |
OMIM:263200 |
| Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Growth delay, Skeletal myopathy, Endocardial... |
OMIM:302060 |
| 1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Cleft palate, Depressed nasal bridge, Broad nasal tip, Short stature, ... |
ORPHA:250999 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Cataract |
OMIM:617228 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, High palate, Minicore myopathy, Skeletal muscle ... |
OMIM:255320 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis, High palate, Bifid uvula |
OMIM:300850 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Facial cleft |
ORPHA:66625 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Cleft palate, Hypodontia, Intrauterine growth retardation... |
ORPHA:254346 |
| Immunodeficiency 13 |
|
Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract ... |
OMIM:615518 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Pericardia... |
OMIM:181000 |
| Anencephaly 2 |
|
Anencephaly, Cleft of alveolar ridge of maxilla, Bifid nose, Median cleft palate, Median cleft lip |
OMIM:619452 |
| Autosomal Recessive Centronuclear Myopathy |
|
High palate, Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular win... |
ORPHA:169186 |
| Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cleft upper lip, Cardiomyopathy, Congestive heart failure, Su... |
ORPHA:34217 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Syncope, Hepatomegaly, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... |
ORPHA:422 |
| Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Carious teeth, Hypospadias, Smooth philtrum, Low hanging columella, Micropen... |
ORPHA:363444 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... |
OMIM:602390 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Cleft palate, Short stature, Micropenis, Thin upper lip vermilion, Recurrent respira... |
OMIM:601808 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Cleft palate, Mitral valve prolapse, Oligodontia, Long philtrum, Peri... |
ORPHA:2712 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Intrauterine growth retardation, Bifid uvula, Wide nasal bridge, Arthrogryposis... |
OMIM:616258 |
| Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
| Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Short stature, Anteverted nares, Large placenta, Jaundice, Depressed nasal ridge, Ve... |
OMIM:222470 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Bifid uvula |
ORPHA:2669 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Growth delay, Drooling... |
ORPHA:576283 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Depressed nasal bridge, Wide mouth, Short stature, Webbed neck, Poly... |
OMIM:611553 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema |
OMIM:604571 |
| Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus, Stillbirth |
OMIM:274210 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Bulbous nose, Long-chain dicarboxylic aciduria, Elbow flexion contracture... |
OMIM:608836 |
| Long-Thumb Brachydactyly Syndrome |
|
Arrhythmia |
OMIM:112430 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
| Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia |
ORPHA:99772 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Smooth philtrum, Cleft palate, Depressed nasal bridge, Long philtrum, ... |
ORPHA:404440 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Tubulointerstitial nephritis, Parotitis, Enlargement of pa... |
ORPHA:797 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Chronic rhinitis, Nasal polyposis, Recurrent sinusitis |
OMIM:618695 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Congenital... |
OMIM:611812 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Hydrocephalus, Bifid uvula |
OMIM:258320 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Telangiectasia, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly... |
OMIM:235200 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... |
OMIM:540000 |
| Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Cardiomyopathy, Organic aciduria |
ORPHA:35 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... |
ORPHA:563 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pulmonary hypoplasia, Pancreatic cysts, Hepatic fibrosis, Asplenia, Bile duct proli... |
OMIM:208540 |
| Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Short stature, Intrahepatic bile duct cysts, Splenomegaly, Hepatos... |
OMIM:301068 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, High palate, Cleft palate, Short philtrum, Depressed nasal bridge, Short statur... |
ORPHA:96184 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pyloric stenosis, Hypospadias, Short stature, Delayed eruption of teeth, Low hanging columella, C... |
OMIM:619148 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Ogden Syndrome |
|
Short stature, Postnatal growth retardation, Thin upper lip vermilion, Pulmonary artery stenosis,... |
OMIM:300855 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
| Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Short stature, Single ventricle, Bilateral lung agenesis, Ventricular septal ... |
OMIM:601186 |
| Congenital Hypothyroidism |
|
Hypertension, Depressed nasal ridge, Thyroid dysgenesis, Goiter, Short stature, Macroglossia, Ora... |
ORPHA:442 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Hydronephrosis, High palate, Hypoplastic nipples, Myelomeningocele, Congenital mega... |
ORPHA:2437 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Distal arthrogryposis, Ankle flexion contracture, High palate, Hip contracture, Arthrogryposis mu... |
OMIM:617468 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Depressed nasal bridge, Short stature, Webbed neck, Joint contracture of... |
OMIM:612350 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
| Leber Congenital Amaurosis 16 |
|
