Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 2 |
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Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Long Qt Syndrome 13 |
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Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Long Qt Syndrome 10 |
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Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Long Qt Syndrome 6 |
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Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Long Qt Syndrome 14 |
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T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Long Qt Syndrome 1 |
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Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Atrial Fibrillation, Familial, 3 |
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Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
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Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Long Qt Syndrome 11 |
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Syncope, Prolonged QTc interval |
OMIM:611820 |
Brugada Syndrome 9 |
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Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Long Qt Syndrome 9 |
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Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Regional Odontodysplasia |
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Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Andersen-Tawil Syndrome |
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Polymorphic ventricular tachycardia, 2-3 toe syndactyly, Torsade de pointes, Micrognathia, Ventri... |
ORPHA:37553 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Palpitations,... |
OMIM:170390 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
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Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Progressive Familial Heart Block, Type Ib |
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Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Jervell And Lange-Nielsen Syndrome 2 |
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Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Sick Sinus Syndrome 1 |
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Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Long Qt Syndrome 8 |
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Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Cardiac Arrhythmia, Ankyrin-B-Related |
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Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Myofibrillar Myopathy 10 |
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Mandibular prognathia, Increased QRS voltage, Left ventricular hypertrophy, Flexion contracture o... |
OMIM:619040 |
Long Qt Syndrome 16 |
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T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Cardiomyopathy, Dilated, 1D |
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Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Long Qt Syndrome 12 |
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Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Long Qt Syndrome 5 |
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Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Long Qt Syndrome 15 |
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Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Sick Sinus Syndrome 2 |
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Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Left ventricular hypertrophy, ... |
OMIM:163800 |
Timothy Syndrome |
|
Microdontia, Syndactyly, Thin upper lip vermilion, Prolonged QT interval, Cardiomegaly, Bradycard... |
OMIM:601005 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
Atrial Fibrillation, Familial, 7 |
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Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Long Qt Syndrome 3 |
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Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Dentin Dysplasia, Type I |
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Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Sick Sinus Syndrome 4 |
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Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi... |
ORPHA:2501 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, 3-Methylglutaconic aciduria, Noncompaction cardiomyopathy, Congestive heart... |
OMIM:610198 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Dental Ankylosis |
|
Tooth agenesis, Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... |
ORPHA:398124 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Pyle Disease |
|
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... |
OMIM:265900 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left ventricular hypertrophy, C... |
ORPHA:90065 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Genu valgum, Mandibular prognathia, Advanced ossification of carpal bones, Cox... |
OMIM:618363 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Calcium nephro... |
ORPHA:36913 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Micrognathia, 3-4 finger cutaneous syndactyly, Camptodactyly, 2-... |
OMIM:620029 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, H... |
ORPHA:26793 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
Rett Syndrome |
|
Abnormal T-wave, Short foot, Prolonged QTc interval, Abnormality of the dentition |
OMIM:312750 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Hepatomegaly, Postaxial hand polydactyly, Abnormal rib m... |
ORPHA:373 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Low urinary cyclic AMP response to PTH administration, Delayed eruption of tee... |
ORPHA:94089 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Enamel hypoplasia, Short 4th metacarpal, Short 5th metacarpal,... |
ORPHA:79444 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth |
OMIM:226650 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Acu... |
ORPHA:90068 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Ethylene Glycol Poisoning |
|
Hypotension, Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Congestive hea... |
ORPHA:31826 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Prolonged QT interval, Hepatomegaly, Bradycardia, Splenomegaly, Atrial fibrillation |
OMIM:613327 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Hematuria, Prolonged QTc interval |
ORPHA:231111 |
Pseudohypoparathyroidism Type 1A |
|
Broad distal phalanx of the thumb, Enamel hypoplasia, Short 4th metacarpal, Short 5th metacarpal,... |
ORPHA:79443 |
Dilated Cardiomyopathy With Ataxia |
|
3-Methylglutaconic aciduria, Hypoplasia of penis, Dilated cardiomyopathy, Prolonged QT interval, ... |
ORPHA:66634 |
Gitelman Syndrome |
|
Hypotension, Nocturia, Prolonged QT interval, Polyuria, Hypocalciuria, Palpitations, Ventricular ... |
OMIM:263800 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Malar flattening, Prolonged QT interval, Mandibular prognathia |
OMIM:300352 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Low urinary cyclic AMP response to PTH administration |
ORPHA:94090 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu varum, Genu valgum, Coxa valga, Hyperphosphaturia, Medullary nephrocalcinosis, Carious teeth... |
OMIM:613312 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Abnormal rib ... |
ORPHA:1452 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Arrhythmia, Prolonged QT interval, Ketonuria |
ORPHA:480864 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Ketonuria, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycard... |
OMIM:616878 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
17Q24.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Upper limb undergrowth, Micrognathia, Short philtrum, Thin upper lip vermi... |
ORPHA:529962 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval... |
ORPHA:71212 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Abnormal T-wave, Renal tubular acidosis, Prom... |
ORPHA:358 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Thyrotoxic Periodic Paralysis |
|
Impaired myocardial contractility, Urinary retention, Shortened PR interval, Prolonged QT interva... |
ORPHA:79102 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Urogenital sinus anomaly, High palate, Short 4th metacarpal, Hallux valgus, Micrognathia, Epispad... |
ORPHA:1772 |
Pycnodysostosis |
|
Aplastic clavicle, Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Ab... |
OMIM:265800 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, High palate, Natal tooth, Absent para... |
OMIM:269300 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short 4th metacarpal, Micrognathia, Abnormal forearm bone morphology, Enlargement of the distal f... |
ORPHA:99413 |
Turner Syndrome |
|
Short 4th metacarpal, Micrognathia, Abnormal forearm bone morphology, Enlargement of the distal f... |
ORPHA:881 |
Mosaic Monosomy X |
|
Short 4th metacarpal, Micrognathia, Abnormal forearm bone morphology, Enlargement of the distal f... |
ORPHA:99228 |
Monosomy X |
|
Short 4th metacarpal, Micrognathia, Abnormal forearm bone morphology, Enlargement of the distal f... |
ORPHA:99226 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Small hand, Long philtrum, Delayed eruption of teeth, 4-5 finger syndactyly,... |
OMIM:257850 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Nephrotic syndrome, Abnormal EKG, Congestiv... |
ORPHA:330001 |
Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... |
OMIM:258850 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Clubbing of fingers, Palpitations, Abnormal P wave, Tricuspid regurgitatio... |
ORPHA:99106 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Acute kidney injury, Sinus tachycardia, Abnormal pulse pressure, ST... |
ORPHA:466650 |
Dysosteosclerosis |
|
Short diaphyses, Short sternum, Broad femoral neck, Broad ribs, High palate, Natal tooth, Short r... |
OMIM:224300 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial devia... |
OMIM:186500 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... |
ORPHA:563 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Dpagt1-Cdg |
|
Clinodactyly, Camptodactyly, Intracranial hemorrhage, Prolonged QT interval, Hepatomegaly, Arachn... |
ORPHA:86309 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Enuresis, Delayed eruption of teeth, Nephrocalcinosis, Hypo... |
ORPHA:1031 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Aplastic clavicle, Aplasia/hypoplasia of the femur, Missing ribs, Clinodac... |
ORPHA:2769 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Dagger-shaped pulp calcificatio... |
OMIM:204690 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Abnormal EKG |
ORPHA:1177 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenu... |
ORPHA:2751 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Mandibular pain, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Shortened QT... |
ORPHA:99880 |
Cerebrocostomandibular Syndrome |
|
Cleft soft palate, Micrognathia, Posterior rib gap, Cleft palate, Glossoptosis, Rib gap, Anomalou... |
OMIM:117650 |
Al Amyloidosis |
|
Reduced left ventricular ejection fraction, Nephrotic syndrome, Abnormal EKG, Macroglossia, Hyper... |
ORPHA:85443 |
Parathyroid Carcinoma |
|
Mandibular pain, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Shortened QT... |
ORPHA:143 |
Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... |
ORPHA:3093 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Telangiectasia, Abnormal EKG, Hepatosplenomegaly, Protruding tongue, Hepatomegaly, G... |
ORPHA:93400 |
Coffin-Lowry Syndrome |
|
Dental malocclusion, Mandibular prognathia, Coxa valga, Tapered finger, Short metacarpal, Hyperex... |
OMIM:303600 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion, Congenital hip dislocation, Abnormality of the ureter, Abnormal r... |
ORPHA:1666 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Abnormality of blood cir... |
ORPHA:860 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Dental malocclusion, Tapered finger, Long philtrum, Macrodontia of permanent max... |
ORPHA:444072 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:310200 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Increased urinary potassium, Epistaxis, P... |
ORPHA:231625 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Pollakisuria, Reduced left ventricular ejection fraction, Abnormal EKG... |
ORPHA:268 |
Multiple Endocrine Neoplasia Type 1 |
|
Gingival fibromatosis, Hypertension, Hematemesis, Shortened QT interval, Nephrolithiasis, Hyperca... |
ORPHA:652 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Syncope, Nocturia, Elevated urinary dopamine, Orthostatic hypotension, Orthostatic ... |
ORPHA:230 |
Ulbright-Hodes Syndrome |
|
Short sternum, High palate, Humeroradial synostosis, Short ribs, Short metacarpal, Hypoplasia of ... |
ORPHA:3404 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal EKG |
OMIM:229300 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Syncope, Left ventricular hypertrophy, Angina pectoris, Congestive... |
ORPHA:1686 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
African Trypanosomiasis |
|
Urinary incontinence, Second degree atrioventricular block, Third degree atrioventricular block, ... |
ORPHA:3385 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Hammertoe |
OMIM:601992 |