Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Hearing impairment, Bradycardia |
OMIM:614896 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Abnormal autonomic nervous system physiology, S... |
ORPHA:101016 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Vertigo, Heart block, Congestive heart failure |
ORPHA:871 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
Nathalie Syndrome |
|
Sensorineural hearing impairment, Arrhythmia |
ORPHA:2663 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased circulating brain natriuretic peptide concentration, Increased le... |
OMIM:601494 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Facial p... |
OMIM:601419 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Hypsarrhythmia, Prolonged PR interval... |
ORPHA:542306 |
Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Brain atrophy, Atrophy/Degeneration affecting the brainstem, Hearing impairment, Hypertrophic car... |
OMIM:616277 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613697 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Sudden cardiac death, Palpitations, Elevated circulating creatine kinase conce... |
OMIM:310300 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... |
OMIM:612158 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
3-Methylglutaconic Aciduria, Type Viii |
|
Sensorineural hearing impairment, Cerebral atrophy, Tremor, Dystonia, Bradycardia |
OMIM:617248 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... |
OMIM:619402 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Elevated circulating creatine kinase concentration, Syncope, Second degree atrioven... |
OMIM:616812 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Vertigo, Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Intention tremor, Prominent antihelix, Macrotia, Simplified gyral pattern, Dystonia, Atrioventric... |
OMIM:614407 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... |
ORPHA:439232 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... |
OMIM:613690 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Hearing impairment |
ORPHA:480 |
Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction |
OMIM:600060 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Sudden cardiac death, Prolonged ... |
OMIM:220400 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Sensorineural hearing impairment |
OMIM:136600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613694 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter |
OMIM:612201 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Cardiomyopathy, Dilated, 1J |
|
Sensorineural hearing impairment, Abnormal left ventricular function, Sudden cardiac death, Dilat... |
OMIM:605362 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613874 |
Nathalie Syndrome |
|
Hearing impairment, Abnormal EKG |
OMIM:255990 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... |
ORPHA:98909 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebral atrophy, Cerebellar atrophy, Hyperalaninemia, Dystonia, Bradycardia |
OMIM:614654 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Bradycardia |
ORPHA:2898 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Cerebellar atrophy, Pulmonary arterial hypertension, Dystonia, Bradyca... |
OMIM:616299 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:615248 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Dilated cardiomyopathy, Simplified gyral pattern, Hypertrophic cardiomyopathy, B... |
OMIM:618815 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
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, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Tachycardia, Hypoproteinemia |
OMIM:221400 |
Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... |
ORPHA:99106 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Sensorineural hearing impairment, Motor axonal neuropathy, Hearing impairment, Sensory axonal neu... |
OMIM:310490 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Abnormal circulating creatine kinase concentration, Facial palsy, Cardiomyopathy, First degree at... |
OMIM:617336 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Cardiomyopathy |
ORPHA:320360 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval, Ventricular fibrillation, Profou... |
ORPHA:90647 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Cerebral atrophy, Atrial flutter, Atrial fibrillation, First degree atrioventric... |
OMIM:160900 |
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 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Abnormal left ventricular function, Cardiomyopathy |
ORPHA:98912 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... |
OMIM:612347 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Brain atrophy, Decreased plasma free carnitine, Hyperalaninemia, Congestive heart failure, Bradyc... |
OMIM:619048 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:614676 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:255100 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Neuronal loss in central nervous system, Abnormal autonomic nervous system physiol... |
OMIM:614498 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Sensorineural hearing impairment, Periventricular nodular heterotopia, Tachycardia, Tremor, Optic... |
OMIM:619737 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Opisthotonus, Bradycardia |
OMIM:619814 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Right bundle branch block |
OMIM:115195 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Optic atrophy, Ventricular preexcitation, Postural tremor |
ORPHA:104 |
Collagenoma, Familial Cutaneous |
|
Sensorineural hearing impairment, Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasc... |
OMIM:115250 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Atrial Fibrillation, Familial, 13 |
|
Paroxysmal atrial fibrillation, Aortic valve stenosis |
OMIM:615377 |
Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... |
ORPHA:94080 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:208750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior horn cells... |
OMIM:118301 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
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 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 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
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, 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 Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
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 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 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
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 Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
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 Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Acitretin/Etretinate Embryopathy |
|
Microtia, Cupped ear, Third degree atrioventricular block, Bilateral sensorineural hearing impair... |
ORPHA:40366 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation, Recurrent otitis media |
OMIM:261990 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Eleva... |
ORPHA:79230 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... |
OMIM:616648 |
D-Glyceric Aciduria |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Opisthotonus, Optic nerve hypoplasia... |
OMIM:220120 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cerebral atrophy, Progressive hearing impairment, Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Dilated cardiomyopathy, Aortic valve stenosis |
OMIM:617912 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Cerebral cortical atrophy, Arrhythmia, Head tremor, Writer's cramp, ... |
OMIM:614860 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Abnormal autonomic nervous system physiology, Cupped ear, Tachycardia, Hypertension, Posteriorly ... |
OMIM:613870 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Congenital Heart Defects, Multiple Types, 2 |
|
Atrial fibrillation, Aortic regurgitation, Aortic valve stenosis, Left ventricular outflow tract ... |
OMIM:614980 |
Tetanus |
|
Opisthotonus, Abnormal autonomic nervous system physiology, Tachycardia, Elevated circulating cre... |
ORPHA:3299 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Cardiomyopathy, Dilated, 2F |
|
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... |
OMIM:619747 |
Ebstein Anomaly |
|
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... |
OMIM:224700 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Glutamine Deficiency, Congenital |
|
Brain atrophy, Hyperammonemia, Hypoglutaminemia, Low-set ears, Bradycardia |
OMIM:610015 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Tachycardia, Hypotension, Abnormal circulating trypt... |
ORPHA:79155 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... |
OMIM:615184 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... |
OMIM:614296 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Abnormal circulating thyroglobulin level, Neonatal hyperbilirub... |
ORPHA:95716 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... |
OMIM:615745 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Kearns-Sayre Syndrome |
|
Sensorineural hearing impairment, Third degree atrioventricular block, Arrhythmia, Cardiomyopathy |
OMIM:530000 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy, Decre... |
ORPHA:276556 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
Wild Type Attr Amyloidosis |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:330001 |
Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Pulsatile tinnitus, Tachycardia, Palpitations |
OMIM:605373 |
Mahvash Disease |
|
Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased g... |
OMIM:619290 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... |
OMIM:115197 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Timothy Syndrome |
|
Hypocalcemia, Prolonged QT interval, Bradycardia |
OMIM:601005 |
Paragangliomas 1 |
|
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... |
OMIM:168000 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Paroxysmal atrial tachycardia, Optic atrophy, Cardiac arrest, C... |
ORPHA:49827 |
Neonatal Lupus Erythematosus |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomyopathy, Heart b... |
ORPHA:398124 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hand tremor, ... |
ORPHA:79299 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98855 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Intracranial hemorrhage, Athetosis, Tinnitus, Second degree atrioventricular block, ... |
ORPHA:369929 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Tachycardia, Arrhythmia, Elevated circulating crea... |
ORPHA:26793 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Abnormal T-wave, ST segment depression, Hypocalcemia, Raynaud phenom... |
ORPHA:358 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope, Vertigo |
ORPHA:464453 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Vertigo, Cardiomyopathy, Co... |
ORPHA:34217 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Arrhythmia, Cerebral ischemia, Right bundle branch block, Atrial fibrillati... |
ORPHA:1880 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation |
OMIM:616166 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... |
OMIM:613424 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Hyperlipidemia, Cerebral hemorrhage, Inflammatory arteriopathy, In... |
ORPHA:31825 |
Hereditary Coproporphyria |
|
Long hairs growing from helix of pinna, Abnormal circulating porphyrin concentration, Tachycardia... |
ORPHA:79273 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98853 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Decreased circulating free fatty a... |
ORPHA:324575 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... |
ORPHA:98863 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Failure to thrive |
OMIM:238340 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, T... |
ORPHA:75249 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... |
ORPHA:137675 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Sensorineural hearing impairment, Torsade de pointes, Elevated circulating acylcarnitine concentr... |
OMIM:616878 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Syncope, Bradycardia, Jaw claudication, Ear pain, Abnormal glossophary... |
ORPHA:221098 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
OMIM:255160 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... |
OMIM:145600 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Maternally-Inherited Diabetes And Deafness |
|
Sensorineural hearing impairment, Abnormal circulating lipid concentration, Arrhythmia, Hypertens... |
ORPHA:225 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the twelfth ... |
ORPHA:268882 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:188580 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertension |
ORPHA:2820 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Progressive senso... |
OMIM:540000 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... |
ORPHA:1677 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebral cortical atrophy, Cerebral atrophy, Opisthotonus, Corpus callosum atrophy, Cerebellar at... |
OMIM:619272 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, EEG abnormality, Decreased nerve conduction velocity, Cerebral atrophy, Corpus call... |
ORPHA:565624 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Hypokalemia |
OMIM:613239 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Tachycardia, Optic disc pallor, Cerebellar atrophy, Interictal EEG abnormality |
ORPHA:79264 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Wolff-Parkinson-White syndrome, Tremor |
OMIM:614947 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... |
ORPHA:276621 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Mcleod Syndrome |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Reduced haptoglobin l... |
OMIM:300842 |
Wolfram-Like Syndrome |
|
Glucose intolerance, Congenital sensorineural hearing impairment, Abnormal pinna morphology, Hypo... |
ORPHA:411590 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Frontal cortical atrophy, Elevated circulating creatine kinase concentration, Dilated cardiomyopa... |
ORPHA:206559 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Hearing impairment, Cardiomyopathy |
ORPHA:329336 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... |
ORPHA:3092 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fract... |
ORPHA:542323 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Dystonia |
ORPHA:1171 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sensorineural hearing impairment, Arrhythmia, Hyperuricemia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Rigid Spine Syndrome |
|
Cardiac conduction abnormality |
ORPHA:97244 |
Refsum Disease |
|
Sensorineural hearing impairment, Heart block, Cardiomyopathy |
ORPHA:773 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia, Congestive heart failure |
ORPHA:90037 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Facial palsy, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, P... |
ORPHA:31826 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... |
OMIM:171420 |
Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Atrophy/Degeneration affecting the brainstem, Abnormal ... |
ORPHA:99852 |
Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Tremor, Decreased nerve conduction velocity, Adult onset sensor... |
ORPHA:1368 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Palpitations, Tremor, Hypertension, Atrial fibrillation, Congestive heart failure |
ORPHA:525731 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Tachycardia, Neurodegeneration, Dilated cardiomyopathy, Hypsarrhythmia, Dystoni... |
OMIM:618321 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Atrial fib... |
OMIM:613327 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Resting tremor, Palpitations, Elevated circulating creatine kinase concentration... |
ORPHA:254892 |
Fabry Disease |
|
Sensorineural hearing impairment, Angina pectoris, Telangiectasia of the skin, Transient ischemic... |
ORPHA:324 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Sensorineural hearing impairment, Abnormal left ventricular function, Arrhythmia, Cerebellar atrophy |
OMIM:618098 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... |
OMIM:311070 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Supraventricular arrhythmia, Torticollis, Axial dystonia, Cerebral cortical atrophy, Head tremor,... |
ORPHA:420492 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Elevated circulating creatine kinase concentration, Right bundle branch block |
OMIM:613158 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level |
ORPHA:264675 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, Hy... |
OMIM:618775 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Increased circulating NT... |
OMIM:232300 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Elevated circulating creatine kinase concentration, Arrhythmia |
OMIM:310095 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... |
ORPHA:263455 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia |
OMIM:300952 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:600649 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... |
ORPHA:79084 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Mercury Poisoning |
|
Hypokalemia, Tachycardia, Hypotension, Tremor, Hypertension, Dystonia |
ORPHA:330021 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Sensorineural hearing impairment, Failure to thrive, Cerebral atrophy, Optic atrophy, Cerebellar ... |
OMIM:300475 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Congenital sensorineural hearing impairment, Hyperinsulinemia |
OMIM:606528 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Wolff-Parkinson-White syndrome, Arm dystonia, Optic atrophy, He... |
OMIM:601338 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia |
ORPHA:90036 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Sensorineural hearing impairment |
ORPHA:85297 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Tachycardia, Dilated cardiomyopathy, Syncope |
OMIM:615821 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Tachycardia, Elevated circulating creatine kinase concentration,... |
ORPHA:368 |
Infantile Cerebellar-Retinal Degeneration |
|
Sensorineural hearing impairment, Failure to thrive, Cerebral cortical atrophy, Decreased body we... |
OMIM:614559 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia, Decreased nerve conduction velocity |
ORPHA:99944 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypsarrhythmia, Bradycardia |
OMIM:610768 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hyperinsulinemia, Type II diabet... |
ORPHA:791 |
Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Palpitations, Elevated circulating creatine kinase concentrati... |
OMIM:602668 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Low-set ears, Hypertrophic cardiomyopathy |
OMIM:618378 |
Oculopharyngodistal Myopathy 1 |
|
Sensorineural hearing impairment, Brain atrophy, Facial palsy, Elevated circulating creatine kina... |
OMIM:164310 |
Infantile Refsum Disease |
|
Sensorineural hearing impairment, Facial palsy, Arrhythmia, Optic atrophy, Elevated levels of phy... |
ORPHA:772 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Right bundle branch block |
OMIM:616479 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... |
ORPHA:29072 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... |
ORPHA:97214 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Oculogyric crisis, Ta... |
ORPHA:94093 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Tularemia |
|
Tachycardia, Otitis media |
ORPHA:3392 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Cerebral hemorrhage, Polymicrogyria, Bradycardia |
OMIM:617397 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Palpitations, Shortened PR inte... |
ORPHA:79102 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Overfolded helix, Mitral regurgitation, Macrotia,... |
ORPHA:324410 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Low-set ears, Aplasia/Hypop... |
ORPHA:65288 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Atrioventricular block, Arrhythmia, Myocarditis |
ORPHA:93317 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Double Outlet Right Ventricle |
|
Hypocalcemia, Abnormality of cartilage of external ear, Pulmonic stenosis, Tachycardia, Heart murmur |
ORPHA:3426 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:601165 |
Paragangliomas 4 |
|
Hypertension associated with pheochromocytoma, Pulsatile tinnitus, Tachycardia, Palpitations |
OMIM:115310 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia, Low-set ears, Poste... |
ORPHA:2849 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Increased total ... |
ORPHA:91547 |
16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Low-set ears, Tachycardia |
ORPHA:485405 |
Hyperoxaluria, Primary, Type I |
|
Intermittent claudication, Optic neuropathy, Atrioventricular block, Raynaud phenomenon, Optic at... |
OMIM:259900 |
Galactokinase Deficiency |
|
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for ge... |
ORPHA:79237 |
Steinert Myotonic Dystrophy |
|
Facial diplegia, Supraventricular tachycardia, Prolonged QRS complex, Cerebral cortical atrophy, ... |
ORPHA:273 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... |
ORPHA:75566 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Familial Isolated Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Dilated cardiomyopathy, Elevated circulating creatine kinase co... |
ORPHA:154 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... |
OMIM:246200 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Carcinoid tumor, Abnormality of the auditory canal, Neuroendocr... |
ORPHA:100084 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... |
ORPHA:860 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Mitral regurgitation, Palpitations, He... |
ORPHA:1330 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic ... |
ORPHA:3085 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
Congenital Fibrinogen Deficiency |
|
Opisthotonus, Tachycardia, Internal hemorrhage |
ORPHA:335 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... |
ORPHA:228308 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Hypotension, Bradycardia |
ORPHA:391673 |
Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Tachycardia, Hypotension, Tremor, Hypertension |
ORPHA:43116 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... |
OMIM:620066 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Superficial Siderosis |
|
Dysgyria, Atrophy/Degeneration affecting the brainstem, Atrophy of the spinal cord, Cerebellar at... |
ORPHA:247245 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Hypertension, Atrioventricular block |
ORPHA:371428 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Hearing impairment, Dystonia, Peripheral demyelination, Axonal ... |
OMIM:616684 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Laryngeal dystonia, Ventricular arrhythmia, Hyp... |
ORPHA:36913 |
Cap Myopathy |
|
Facial palsy, Sinus tachycardia, Reduced systolic function |
ORPHA:171881 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... |
OMIM:171300 |
Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... |
ORPHA:980 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Sheehan Syndrome |
|
Sensorineural hearing impairment, Orthostatic hypotension, Palpitations, Hyponatremia, Vertigo, B... |
ORPHA:91355 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Elevated circulating creatine kinase concentration, H... |
ORPHA:308552 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hypertension, Low-set ears, Bradycardia |
OMIM:614653 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Abnormality of the peritoneum, ... |
ORPHA:2126 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Porphyria Variegata |
|
Abnormal autonomic nervous system physiology, Tachycardia, Abnormal circulating porphyrin concent... |
ORPHA:79473 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Sinus tachycardia |
OMIM:616716 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Arrhythmia, Elevated levels of phytanic acid, Cardiomyopathy, C... |
OMIM:266500 |
Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Bilateral facial palsy, Right bundle branch b... |
ORPHA:254361 |
Encephalitis Lethargica |
|
Tremor, Bradycardia |
ORPHA:83600 |
Cirrhotic Cardiomyopathy |
|
Abnormal A-type atrial natriuretic peptide level, Third heart sound, Left ventricular diastolic d... |
ORPHA:57777 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... |
ORPHA:173 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Mucopolysaccharidosis Type 3 |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Conductive hearing impa... |
ORPHA:581 |