Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... |
OMIM:613688 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... |
OMIM:611819 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... |
ORPHA:45453 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
Brugada Syndrome 9 |
|
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations |
OMIM:616399 |
Long Qt Syndrome 14 |
|
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... |
OMIM:616247 |
Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes |
OMIM:220400 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... |
OMIM:613693 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... |
OMIM:613980 |
Wolff-Parkinson-White Syndrome |
|
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... |
OMIM:194200 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... |
OMIM:607554 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
Brugada Syndrome 3 |
|
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... |
OMIM:611875 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... |
OMIM:192500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... |
OMIM:611528 |
Brugada Syndrome 7 |
|
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... |
ORPHA:45452 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... |
OMIM:618447 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
Cardiomyopathy, Dilated, 1Nn |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... |
OMIM:615916 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... |
ORPHA:2502 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... |
ORPHA:93356 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... |
OMIM:612347 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
Brugada Syndrome 6 |
|
ST segment elevation, Cardiac arrest, Ventricular fibrillation |
OMIM:613119 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... |
OMIM:609620 |
Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
Long Qt Syndrome 12 |
|
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes |
OMIM:612955 |
Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis |
ORPHA:2768 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Romano-Ward Syndrome |
|
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... |
ORPHA:101016 |
Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... |
OMIM:608751 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death |
OMIM:620231 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... |
OMIM:608758 |
Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
Glycogen Storage Disease Xv |
|
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... |
OMIM:613507 |
Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Meta... |
ORPHA:93317 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... |
OMIM:603830 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... |
OMIM:612422 |
Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... |
OMIM:617047 |
Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... |
ORPHA:66529 |
Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... |
OMIM:310300 |
Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... |
OMIM:602111 |
Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... |
ORPHA:85451 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... |
ORPHA:99106 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu valgum, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Bowi... |
OMIM:600785 |
Coronary Arterial Fistula |
|
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... |
ORPHA:2041 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ... |
OMIM:605274 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... |
ORPHA:263297 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Clinodactyly of the 5th toe, Polymorphic ventricular tachycardia, Prolonged Q... |
ORPHA:37553 |
Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... |
ORPHA:75565 |
Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
Peripartum Cardiomyopathy |
|
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... |
ORPHA:563 |
Loeffler Endocarditis |
|
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... |
ORPHA:75566 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Wild Type Attr Amyloidosis |
|
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... |
ORPHA:330001 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... |
OMIM:615745 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... |
OMIM:255160 |
Atrial Septal Defect, Ostium Secundum Type |
|
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... |
ORPHA:99103 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short finger, Hip subluxation, Flared metaphysis, Epiphyseal stippling, Triangular shaped distal ... |
OMIM:271665 |
Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... |
OMIM:601214 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... |
OMIM:610442 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Clinodactyly of the 5th toe, Prolonged QT interval, Clinodactyly of the 5th finger, Short metatar... |
OMIM:170390 |
Congenital Aortic Valve Stenosis |
|
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... |
ORPHA:3093 |
Muscular Dystrophy, Duchenne Type |
|
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG |
OMIM:310200 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... |
OMIM:261740 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... |
ORPHA:90065 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... |
ORPHA:860 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Rett Syndrome |
|
Prolonged QTc interval, Short foot, Abnormal T-wave |
OMIM:312750 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Arrh... |
ORPHA:85443 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Abnormal EKG, Telangiectasia |
ORPHA:93400 |
Friedreich Ataxia |
|
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy |
OMIM:229300 |
Dextrocardia |
|
T-wave inversion, Abnormal EKG, Congenital hip dislocation |
ORPHA:1666 |
Cardiac Diverticulum |
|
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... |
ORPHA:1686 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... |
ORPHA:70591 |
Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope |
ORPHA:230 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction |
ORPHA:268 |
Interatrial Communication |
|
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... |
ORPHA:1478 |
Absence Of The Pulmonary Artery |
|
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... |
ORPHA:980 |
Scorpion Envenomation |
|
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... |
ORPHA:466677 |
Noonan Syndrome |
|
Clinodactyly of the 5th finger, Hypertrophic cardiomyopathy, Arrhythmia, Brachydactyly, Radioulna... |
ORPHA:648 |
Gitelman Syndrome |
|
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven... |
ORPHA:358 |
Cerebellar-Facial-Dental Syndrome |
|
Slender long bone, Tapered finger, Abnormal T-wave |
ORPHA:444072 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Arrhythmia, Abnormal T-wave |
ORPHA:2131 |
Friedreich Ataxia 2 |
|
Hammertoe, Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... |
ORPHA:466650 |
African Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Pericarditis, Arrhythmia, Third degree atrioventricular bl... |
ORPHA:3385 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Preaxial ha... |
OMIM:236680 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele |
ORPHA:475 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia |
ORPHA:2189 |