Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Hearing impairment |
OMIM:614896 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... |
ORPHA:101016 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... |
OMIM:601369 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Vertigo, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Nathalie Syndrome |
|
Sensorineural hearing impairment, Arrhythmia |
ORPHA:2663 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular Schwannoma |
OMIM:613641 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Bradycardia, Prolonged PR interval, Sick sinus syndrom... |
ORPHA:542306 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo |
ORPHA:3230 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Palpitations, Atrioventricular block, Elevated circulating creatine k... |
OMIM:616812 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Reduced eje... |
OMIM:619402 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Hydroxykynureninuria |
|
Hypotension, Tachycardia, Hearing impairment |
OMIM:236800 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Atrial Fibrillation, Familial, 4 |
|
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... |
OMIM:611493 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest, Vertigo |
OMIM:614916 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Atrioventricular block, Elevated circulating creatine kinase concentration,... |
OMIM:310300 |
Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Reduced ejection fraction, Atrial fibrillatio... |
ORPHA:217607 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
3-Methylglutaconic Aciduria, Type Viii |
|
Sensorineural hearing impairment, Tremor, Bradycardia, Cerebral atrophy |
OMIM:617248 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Syncope, Prolonged QT interval, Congenital sensorineural hearing impairment, Torsade de pointes, ... |
OMIM:612347 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia, Vertigo |
ORPHA:3286 |
Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vertigo |
OMIM:600060 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Syncope, Prolonged QT interval, Congenital sensorineural hearing impairment, Torsade de pointes, ... |
OMIM:220400 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Hearing impairment |
ORPHA:480 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Macrotia, Bradycardia, Simplified gyral pattern, Intention tremor, Promin... |
OMIM:614407 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Sudden cardia... |
OMIM:605362 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... |
ORPHA:98909 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... |
OMIM:604169 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Cardiomyopathy, Atrial fibrillation |
OMIM:613690 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Hypoproteinemia, Tachycardia |
OMIM:221400 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia, Diffuse cerebral atrophy |
ORPHA:2898 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Simplified gyral pattern, EEG a... |
OMIM:618815 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Sensorineural hearing impairment, Sensory axonal neuropathy, Motor axonal neuropathy, Hearing imp... |
OMIM:310490 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Cardiomyopathy, Atrial fibrillation |
OMIM:613874 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Congestive heart failure, Atrial fibrillation, Mitral regurgitation |
OMIM:617047 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:607821 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Supraventricular arrhythmia |
ORPHA:320360 |
Myotonic Dystrophy 1 |
|
Atrial fibrillation, Facial diplegia, Atrial flutter, Cerebral atrophy, First degree atrioventric... |
OMIM:160900 |
Nathalie Syndrome |
|
Abnormal EKG, Hearing impairment |
OMIM:255990 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Bradycardia, Hyperalaninemia |
OMIM:614654 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, C... |
OMIM:615248 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation |
OMIM:615770 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Cardiomyopathy, Heart block |
ORPHA:98912 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:601494 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Glucose intolerance, Impaired glucose tolerance, Hearing impairment, Diabetes mell... |
OMIM:614296 |
Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... |
OMIM:614022 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin |
OMIM:616299 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Decreased plasma free carnitine, Bradycardia, Hyperalaninemia, Brain atrophy, Congestive heart fa... |
OMIM:619048 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Neuronal loss in central nervous system, Bradycardia, Abnormal autonomic nervous s... |
OMIM:614498 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Collagenoma, Familial Cutaneous |
|
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Sensorineural hearing impairment, V... |
OMIM:115250 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Bilateral sensorineural hearing impairment, ... |
ORPHA:90647 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... |
OMIM:115197 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Optic atrophy, Ventricular preexcitation, Retinal telangiectasia, Arrhythmia |
ORPHA:104 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Conductive hearing impairment, Paroxysmal vertigo, Hypercalcemia, Palpitatio... |
ORPHA:94080 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Elevated circ... |
OMIM:212138 |
Atrial Fibrillation, Familial, 13 |
|
Paroxysmal atrial fibrillation, Aortic valve stenosis |
OMIM:615377 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Orthostatic hypotension, Atrioventricular block, Decreased nerve conduction velocity, Abnormal at... |
OMIM:118301 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:208750 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia, Bilateral sensorineural hearing impairment, Mic... |
ORPHA:40366 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment |
OMIM:600974 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment |
OMIM:608565 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Mental Retardation, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment |
OMIM:618915 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation |
OMIM:613980 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation |
OMIM:614049 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation |
OMIM:612201 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation, Recurrent otitis media |
OMIM:261990 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive hearing impairment, Cardiomyopathy, Bradycardia, Cerebral atrophy, Arrhythmia |
OMIM:609286 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Sensorineural hearing i... |
OMIM:616648 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Aganglionic megacolon, Posteriorly rotated ears, Tachycardia, Cupped ear, Abnormal ... |
OMIM:613870 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Aortic valve stenosis, Atrial fibrillation |
OMIM:617912 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment |
OMIM:124900 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Tetanus |
|
Hypertension, Opisthotonus, Elevated circulating creatine kinase concentration, Bradycardia, Tach... |
ORPHA:3299 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Aortic valve stenosis, Atrial fibrillation, Left ventricular outflow tract ... |
OMIM:614980 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Vertigo, Cardiomyopathy, Right bundle branch block, ST seg... |
ORPHA:263297 |
Kearns-Sayre Syndrome |
|
Sensorineural hearing impairment, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Tachycardia, Abnormal circulating tryptophan concent... |
ORPHA:79155 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Abnormal circulating thyroglobulin level, Bradycardia, Neonatal... |
ORPHA:95716 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Paragangliomas 3 |
|
Palpitations, Pulsatile tinnitus, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:605373 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia, Decreased circulating free fatty... |
ORPHA:276556 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... |
OMIM:224700 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Vertigo, Recurrent pancreatitis, In... |
OMIM:619290 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Paragangliomas 1 |
|
Conductive hearing impairment, Palpitations, Pulsatile tinnitus, Tachycardia, Hypertension associ... |
OMIM:168000 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... |
ORPHA:398124 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, Atrio... |
ORPHA:98855 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Atrioventricular block, Abnormal atrioventricular conduction |
OMIM:118230 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Hypocalcemia |
OMIM:601005 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Hypokalemia, Palpitations, ST ... |
ORPHA:358 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Paroxysmal atrial tachycardia, Sensorineural hearing impairment, Cardiac arrest, C... |
ORPHA:49827 |
Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
Lyme Disease |
|
Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hand tremor, ... |
ORPHA:79299 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation |
OMIM:616166 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Ventricular tachycardia, Atrioven... |
ORPHA:26793 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... |
ORPHA:98853 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Vertigo, Tachycardia, Arrhythmia |
ORPHA:464453 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Hyperlipidemia, Permanent atrial fibr... |
ORPHA:31825 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Hereditary Coproporphyria |
|
Long hairs growing from helix of pinna, Hyponatremia, Tachycardia, Abnormal circulating porphyrin... |
ORPHA:79273 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Vertigo, Cardiomyopathy, Congestive heart failure, Sudden car... |
ORPHA:34217 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Glutamine Deficiency, Congenital |
|
Bradycardia, Hyperammonemia, Brain atrophy, Hypoglutaminemia, Low-set ears |
OMIM:610015 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia |
OMIM:601493 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98863 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Failure to thrive |
OMIM:238340 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular Schwannoma |
OMIM:603641 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Palpitations, Tachycardia, Decreased circulating free fatty acid level, Increased C-pept... |
ORPHA:324575 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... |
ORPHA:75249 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... |
ORPHA:1880 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventric... |
ORPHA:137675 |
Non-Syndromic Genetic Deafness |
|
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... |
ORPHA:87884 |
Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Intracranial hemorrhage, Hypokalemia, Pulmonary arterial hypertension, Epistaxis, T... |
ORPHA:369929 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
Glossopharyngeal Neuralgia |
|
Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradycardia, Ear ... |
ORPHA:221098 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Tachycardia, Hyperphosphatemia,... |
OMIM:145600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Arrhythmia, EEG abnormality |
ORPHA:1314 |
Heart-Hand Syndrome Type 3 |
|
Sick sinus syndrome, Bundle branch block |
ORPHA:1342 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... |
ORPHA:1677 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Sensorineura... |
ORPHA:225 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Polyendocrine-Polyneuropathy Syndrome |
|
Progressive hearing impairment, Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, ... |
ORPHA:453533 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Adult onset sensorin... |
ORPHA:268882 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Atrial fibrillation, Elevated circulating creatine kinase... |
OMIM:300842 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:188580 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia |
OMIM:613424 |
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 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertension |
ORPHA:2820 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Conductive hearing impairment, Paroxysmal vertigo, Hypercalcemia, Palpitatio... |
ORPHA:276621 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular tachycardia, Elevated circulating creatin... |
OMIM:616878 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Congestive heart failure, Bilateral sensorineural hearing impairment, Wolff-Parkins... |
OMIM:540000 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, T... |
OMIM:613327 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Tachycardia, Cerebral atrophy, Interictal EEG abnormality |
ORPHA:79264 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:613239 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Optic atrophy, Wolff-Parkinson-White syndrome |
OMIM:614947 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Dystonia 23 |
|
Head tremor, Cerebellar atrophy, Arrhythmia, Cerebral cortical atrophy |
OMIM:614860 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Opisthotonus, Pulmonary arterial hypertension, Bradycardia, Corpus callosum a... |
OMIM:619272 |
Wolfram-Like Syndrome |
|
Optic atrophy, Congenital sensorineural hearing impairment, Glucose intolerance, Abnormality of t... |
ORPHA:411590 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Holt-Oram Syndrome |
|
First degree atrioventricular block, Atrioventricular block, Paroxysmal atrial fibrillation |
ORPHA:392 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Elevated circulating creatinine concentration, Tachycardia, Heart bloc... |
ORPHA:542323 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricular syst... |
ORPHA:206559 |
Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
Refsum Disease |
|
Sensorineural hearing impairment, Cardiomyopathy, Heart block |
ORPHA:773 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Cardiomyopathy, Hearing impairment |
ORPHA:329336 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Increased total bilirubin |
ORPHA:90037 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Gray matter heterotopia, Polymicrogyria, Bradycardia |
OMIM:617397 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Hyperkalemia, Prolonged QT interval, Atrial fibrillation, Facial palsy, Tach... |
ORPHA:31826 |
Rigid Spine Syndrome |
|
Cardiac conduction abnormality |
ORPHA:97244 |
Pediatric-Onset Graves Disease |
|
Hypertension, Atrial fibrillation, Palpitations, Tremor, Congestive heart failure, Sinus tachycardia |
ORPHA:525731 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... |
OMIM:171420 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Hyperuricemia, Sensorineural hearing impairment, Arrhythmia |
ORPHA:3222 |
Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Adult onset sensorineural hearing impairment, Decreased nerve c... |
ORPHA:1368 |
Fixed Subaortic Stenosis |
|
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Aortic regurgitation, Pulmoni... |
ORPHA:3092 |
Ravine Syndrome |
|
Failure to thrive, Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal ... |
ORPHA:99852 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Sensorineural hearing impairment, Failure to thrive |
OMIM:617950 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Cerebellar atrophy, Reduced ejection fraction, Ventricular arrhythmia, At... |
ORPHA:254892 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Atrophy/Degeneration affecting the brainstem, Decreased nerve conduction veloc... |
ORPHA:565624 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hypertension, Mitral regurgitation, Hyperlipidemia, A... |
ORPHA:324 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Segmen... |
OMIM:311070 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... |
ORPHA:449285 |
Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Glycogen Storage Disease Ii |
|
Elevated circulating creatine kinase concentration, Wolff-Parkinson-White syndrome, Shortened PR ... |
OMIM:232300 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration |
ORPHA:264675 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Sensorineural hearing impairment, Cerebellar atrophy, Abnormal left ventricular function, Arrhythmia |
OMIM:618098 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Elevated circulating creatine kinase concentration, Right bundle branch block |
OMIM:613158 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Elevated circulating creatine kinase concentration, Arrhythmia |
OMIM:310095 |
Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia, Elevated circulating creatine kinase concentration |
OMIM:602668 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Congenital sensorineural hearing impairment, Hypoglycemia, Hyperinsulinemia, Failure to thrive |
OMIM:606528 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Bradycardia, Tachycardia |
OMIM:614653 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... |
ORPHA:1215 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... |
ORPHA:79084 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Papilledema, Bradycardia, Elevated circulating creatine kinase conce... |
OMIM:618775 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia, Decreased nerve conduction velocity |
ORPHA:99944 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Hyperammonemia, Elevated circulating creatine ki... |
OMIM:600649 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Conductive hearing impairment, Paroxysmal vertigo, Hypercalcemia, Palpitatio... |
ORPHA:29072 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... |
ORPHA:3216 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Sensorineural hearing impairment, Facial palsy |
OMIM:609283 |
Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:164310 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
Infantile Refsum Disease |
|
Optic atrophy, Facial palsy, Cardiomyopathy, Hearing impairment, Sensorineural hearing impairment... |
ORPHA:772 |
Retinitis Pigmentosa |
|
Conductive hearing impairment, Optic atrophy, Type II diabetes mellitus, Hypogonadism, Abnormal t... |
ORPHA:791 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Tachycardia, Elevated circulating c... |
ORPHA:368 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Tremor, Hypotension |
ORPHA:330021 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Optic neuropathy, Hyperoxaluria, Atrioventricular block, Raynaud phenomenon, Inter... |
OMIM:259900 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... |
ORPHA:71526 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... |
ORPHA:97214 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Elevated circulating creatine kinase concentration, Cerebellar atrophy, Right bundle branch block |
OMIM:616479 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Tularemia |
|
Otitis media, Tachycardia |
ORPHA:3392 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Arrhythmia, Pachygyria |
ORPHA:93317 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hypertension, Hyperphosphatemia, Hyponatremia, Hypernatremia, Elevated circulating ... |
ORPHA:94093 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral regurgitation, Overfolded helix, Macrotia, Tricuspid regurgitation, Atrial flutter, Conges... |
ORPHA:324410 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Paragangliomas 4 |
|
Palpitations, Pulsatile tinnitus, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:115310 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Sens... |
ORPHA:79237 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... |
ORPHA:79102 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Low-set ears, Optic nerve hypoplasia, Neonatal insulin-depend... |
ORPHA:65288 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Facial diplegia, Sup... |
ORPHA:273 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Hypertension, Opisthotonus, Tachycardia |
OMIM:184850 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Familial Isolated Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Dilated cardiomyopathy, Elevated circulating creatine kinase co... |
ORPHA:154 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy |
OMIM:192600 |
Perlman Syndrome |
|
Hepatomegaly, Posteriorly rotated ears, Abnormal pancreas morphology, Low-set ears, Cryptorchidis... |
ORPHA:2849 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601165 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Macrotia, Precocious puberty, Pancreatic i... |
OMIM:246200 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Epistaxis, Tachycardia, Increased total bilirubin,... |
ORPHA:91547 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Abnormality of the auditory canal, Facial palsy, Abnormality of the tymp... |
ORPHA:100084 |
Partial Atrioventricular Septal Defect |
|
Syncope, Mitral regurgitation, Angina pectoris, Palpitations, Heart murmur, Transient ischemic at... |
ORPHA:1330 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Decreased plasma free carnitine, Hyperlipidemia, Elevated circ... |
ORPHA:228308 |
Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Tachycardia, Pulmonic stenosis, Hypocalcemia, Heart murmur |
ORPHA:3426 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Bradycardia, Hypotension |
ORPHA:391673 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Papilledema, Hypertension |
ORPHA:371428 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Low-set ears, Wolff-Parkinson-White syndrome |
OMIM:618378 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... |
ORPHA:860 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Type II diabetes mellitus, Polycystic ovaries, Sensorineural hearing impairme... |
ORPHA:3085 |
Serotonin Syndrome |
|
Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Tremor, Hypotension |
ORPHA:43116 |
Superficial Siderosis |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Vertigo, Atrophy of the spinal ... |
ORPHA:247245 |
Congenital Fibrinogen Deficiency |
|
Internal hemorrhage, Opisthotonus, Tachycardia |
ORPHA:335 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Low-set ears, Tachycardia |
ORPHA:485405 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Absence Of The Pulmonary Artery |
|
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... |
ORPHA:980 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... |
OMIM:304400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Low-output conge... |
ORPHA:308552 |
Cap Myopathy |
|
Facial palsy, Reduced systolic function, Sinus tachycardia |
ORPHA:171881 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Limb tremor, Head tremor, Supraventricular arrhythmia, Cerebral cortical atrophy |
ORPHA:420492 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Palpitations, Vertigo, Bradycardia, Sensorineural hearing ... |
ORPHA:91355 |
Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Tachycardia, Congestive heart failure,... |
OMIM:171300 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Sinus tachycardia |
OMIM:616716 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Sensorineural hearing impairment, Cerebral ... |
OMIM:300475 |
Deafness, Autosomal Dominant 50 |
|
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... |
OMIM:613074 |
Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
Porphyria Variegata |
|
Hypertension, Hyponatremia, Abnormal autonomic nervous system physiology, Tachycardia, Abnormal c... |
ORPHA:79473 |
Refsum Disease, Classic |
|
Cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Elevated levels of ph... |
OMIM:266500 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Bilateral facial palsy, Right bundle branch b... |
ORPHA:254361 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... |
OMIM:615373 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation |
OMIM:274600 |
Encephalitis Lethargica |
|
Tremor, Bradycardia |
ORPHA:83600 |
Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... |
ORPHA:466677 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Orthostatic hypotension, Glucose intolerance, Impaired glucose tolerance, Pan... |
OMIM:606721 |
Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... |
OMIM:600996 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Hyperammonemia, Elevated creatine kinase after exercise,... |
ORPHA:159 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Posteriorly rotated ears, Pulmonic stenosis, Low-set ears, Paroxys... |
OMIM:617877 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Ventricular arrhythmia, Hypoca... |
ORPHA:36913 |
Mucopolysaccharidosis Type 3 |
|
Central nervous system degeneration, Conductive hearing impairment, Optic atrophy, Reduced ejecti... |
ORPHA:581 |
Heart Block, Congenital |
|
Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Atria... |
OMIM:234700 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Leopard Syndrome 1 |
|
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Posteriorly rotated ears, Bundl... |
OMIM:151100 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Arrhythmia, Cardiomyopathy |
OMIM:249270 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Cholera |
|
Hyponatremia, Hypovolemic shock, Hypokalemia, Tachycardia, Hypocalcemia, Hypotension, Abnormal bl... |
ORPHA:173 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Elevated circulating creatinine concentration, Tachycardia... |
OMIM:223900 |
Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vestibular Schwannoma, Vertigo, Facial palsy, Abnormality of p... |
ORPHA:252164 |
Atrioventricular Septal Defect 3 |
|
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... |
OMIM:600309 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... |
ORPHA:66628 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Vertigo, Hypomagnesemi... |
OMIM:263800 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Thickened helices, Microtia |
ORPHA:261295 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Axona... |
OMIM:601596 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... |
ORPHA:280356 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Elevated circul... |
ORPHA:90068 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage |
OMIM:611773 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Ogden Syndrome |
|
Premature ventricular contraction, Ventricular tachycardia, Torsade de pointes, Supraventricular ... |
OMIM:300855 |
Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Hyperkalemia, Ventricular tachycardia, Supraventricular tachyc... |
ORPHA:423 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:609040 |
African Iron Overload |
|