Sinoatrial Node Dysfunction And Deafness |
|
Syncope, Increased heart rate variability, Hearing impairment, Bradycardia, Abnormal QRS complex |
OMIM:614896 |
Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Abnormal autonomic nervous ... |
ORPHA:101016 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Dominant 9 |
|
Tinnitus, Abnormality of the vestibulocochlear nerve, Vertigo, Cochlear degeneration, Postlingual... |
OMIM:601369 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Increased circulating creatine kinase MB isoform, Right ve... |
OMIM:610193 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... |
OMIM:113900 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Vertigo, Bundle branch block, Congestive heart failure |
ORPHA:871 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Increased circulating brain natriuretic peptide conce... |
OMIM:601494 |
Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... |
OMIM:163800 |
Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
Nathalie Syndrome |
|
Arrhythmia, Sensorineural hearing impairment |
ORPHA:2663 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Hypsarrhythmia, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular ... |
ORPHA:542306 |
Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... |
OMIM:613697 |
Aminoacylase 1 Deficiency |
|
Cerebral atrophy, Sensorineural hearing impairment, Bradycardia, Cerebellar atrophy, Cerebral cor... |
OMIM:609924 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear |
ORPHA:3230 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Large for ges... |
OMIM:601820 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Atrophy/Degeneration affecting the brainstem, Hearing impairment, Hypertrophic cardiomyopathy, Br... |
OMIM:616277 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... |
OMIM:616201 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
His Bundle Tachycardia |
|
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Supraventricular tachycardia, Atrioventricular block, Dilated cardiomyopathy, Hyp... |
OMIM:612158 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Asymmetric septal hypertrophy, Concentric hypertrophic cardiomyopathy, Reduced left ventricular e... |
OMIM:619402 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Palpitations, First degree atrioventricular block, Sudden cardiac death, Elevated ... |
OMIM:310300 |
Schwannomatosis 1 |
|
Peripheral schwannoma, Vestibular schwannoma |
OMIM:162091 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... |
OMIM:611493 |
Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment |
ORPHA:3465 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602087 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Elevated circulating creatine kinase... |
OMIM:616812 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Vertigo, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Simplified gyral pattern, Intention tremor, Atrioventricular block, Macrotia... |
OMIM:614407 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... |
ORPHA:439232 |
Deafness, Autosomal Recessive 2 |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600060 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... |
OMIM:612124 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Elevated left ventricular end-di... |
OMIM:612201 |
Cardiomyopathy, Dilated, 1U |
|
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... |
OMIM:613694 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Hearing impairment |
ORPHA:480 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertro... |
OMIM:613690 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... |
OMIM:606762 |
Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Congenital sensorineur... |
OMIM:220400 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Arrhythmia, Severely reduced left ventricular ejection fraction, Elevated circulating creatine ki... |
OMIM:611705 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602086 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Hypsarrhythmia, Cerebral atrophy, Simplified gyral pattern, Sinus bradycardia, Pachygyria, Cerebe... |
OMIM:618397 |
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, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... |
OMIM:610476 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Arrhythmia, ... |
OMIM:181350 |
Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation, Reduced left ventricular e... |
OMIM:614672 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy |
ORPHA:320360 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Sensorineural... |
OMIM:605362 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
Deafness, Autosomal Recessive 89 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:613916 |
Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613874 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy |
OMIM:613876 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia, Diffuse cerebral atrophy |
ORPHA:2898 |
Nathalie Syndrome |
|
Abnormal EKG, Hearing impairment |
OMIM:255990 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Hypertrophic cardiomyopathy, Congestive heart failure, Increased left ventr... |
OMIM:615248 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Simplified gyral pattern, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, B... |
OMIM:618815 |
Deafness, Mid-Tone Neural |
|
Progressive hearing impairment, Sensorineural hearing impairment |
OMIM:124700 |
Deafness, Autosomal Dominant 49 |
|
Progressive hearing impairment, Sensorineural hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
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 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... |
OMIM:608758 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hearing impairment, Hyperglycemia, Transient neonat... |
ORPHA:99886 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... |
OMIM:617047 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... |
OMIM:614916 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
Congenital Myopathy 24 |
|
Facial palsy, Cardiomyopathy, Abnormal circulating creatine kinase concentration, First degree at... |
OMIM:617336 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia, Sensorineural hearing impairment |
OMIM:221400 |
Atrial Septal Defect, Ostium Primum Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... |
ORPHA:99106 |
Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Profound sensorineural hearing impairment, Bilateral sensorineural hearin... |
ORPHA:90647 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Cerebral atrophy, Generalized dystonia, Decreased plasma carnitine, Hypertrophic ... |
OMIM:618235 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... |
OMIM:115195 |
Deafness, Autosomal Recessive 15 |
|
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Deafness, Autosomal Recessive 67 |
|
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:610265 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... |
OMIM:614022 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Congenital ... |
OMIM:612347 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Decreased plasma free carnitine, Hyperalaninemia, Congestive heart failure, Bradycardia, Brain at... |
OMIM:619048 |
Myotonic Dystrophy 1 |
|
Cerebral atrophy, Facial diplegia, First degree atrioventricular block, Atrial flutter, Atrial fi... |
OMIM:160900 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:614676 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Hyperglutaminemia, Increased total bilirubin, Hyperprolinemia, B... |
OMIM:616299 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... |
OMIM:613251 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycardia, Abnormal capi... |
ORPHA:90064 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebral atrophy, Hyperalaninemia, Bradycardia, Cerebellar atrophy, Dystonia |
OMIM:614654 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular nodular heterotopia, Optic disc pallor, Tremor, Sensorineural hearing impairment,... |
OMIM:619737 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... |
OMIM:620247 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hyperammonemia, Hypotension, Cardiomyopathy, Elevated ci... |
OMIM:212138 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Abnormal autonomic nervous ... |
ORPHA:85451 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Hypocalcemia, B... |
OMIM:601005 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Supraventricular tachycardia |
OMIM:255100 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Postural tremor, Ventricular preexcitation, Optic atrophy |
ORPHA:104 |
Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block, Opisthotonus |
OMIM:619814 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Conductive hearing impairment, Cerebral hemorrhage, Sinus tachycardia, Palpitation... |
ORPHA:94080 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... |
OMIM:613873 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation |
OMIM:615377 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:208750 |
Collagenoma, Familial Cutaneous |
|
Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... |
OMIM:115250 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block |
OMIM:615616 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
Mody |
|
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Overwei... |
ORPHA:552 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
Congenital Heart Defects, Multiple Types, 2 |
|
Left ventricular outflow tract obstruction, Aortic regurgitation, Aortic valve stenosis, Congesti... |
OMIM:614980 |
Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Increased circulati... |
OMIM:619747 |
Danon Disease |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... |
OMIM:300257 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, In... |
ORPHA:79230 |
Optic Atrophy 8 |
|
Mitral regurgitation, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opti... |
OMIM:616648 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Acitretin/Etretinate Embryopathy |
|
Bilateral sensorineural hearing impairment, Cupped ear, Bradycardia, Third degree atrioventricula... |
ORPHA:40366 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration |
OMIM:613205 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... |
OMIM:612098 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Recurrent otitis media, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... |
OMIM:617222 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... |
OMIM:615184 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Abnormal B-type natriuretic peptide concentration, Angina pectoris, Brady... |
ORPHA:66529 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Left bundle branch block, Congestive heart failure, Increased left ventricu... |
OMIM:601493 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Optic atrophy, Dystonia |
OMIM:614702 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive hearing impairment, Cerebral atrophy, Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
D-Glyceric Aciduria |
|
Hypsarrhythmia, Nonketotic hyperglycinemia, Optic nerve hypoplasia, Opisthotonus, Sensorineural h... |
OMIM:220120 |
Dystonia 23 |
|
Limb dystonia, Torticollis, Axial dystonia, Arrhythmia, Writer's cramp, Head tremor, Cerebellar a... |
OMIM:614860 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Atrial fibrillation, Dilated cardiomyopathy |
OMIM:617912 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Arrhythmia, Palpitations, Cardiomyopathy, Abnormal... |
ORPHA:263297 |
Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Tetanus |
|
Hypertension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Elevat... |
ORPHA:3299 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Hypertension, Abnormal autonomic nervous system physiology, Aganglionic... |
OMIM:613870 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Increased body weight, Pancreatic islet-cell hyperplasia, Reactive hypoglyc... |
ORPHA:276608 |
Ebstein Anomaly |
|
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... |
OMIM:224700 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating insulin concentration, Abnormal circulating selenium c... |
ORPHA:171706 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Progressive hearing impairment, Dystonia, Central hypothyroidism, Decr... |
ORPHA:453533 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... |
OMIM:115197 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Congenital sensorineural hearing impa... |
ORPHA:79155 |
Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Abnormal circulating ... |
ORPHA:95716 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Mitral regurgitation, Systolic heart murmur, Right ventricular f... |
ORPHA:99103 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Abnormal autonomic nervous system physiology, EEG with burst suppression, Bradycardia, Neuronal l... |
OMIM:614498 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Hyperpepsi... |
OMIM:615745 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Truncal obesity, Hypoinsulinemia, Large for gestatio... |
OMIM:240900 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Autonomic bladder dysfunction, Abnormal autonomic nervous system physio... |
ORPHA:330001 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased glucagon level, Vertigo, Typ... |
OMIM:619290 |
Glutamine Deficiency, Congenital |
|
Low-set ears, Hyperammonemia, Bradycardia, Brain atrophy, Hypoglutaminemia |
OMIM:610015 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Syncope, Palpitations, Increased C-peptide level, Hy... |
ORPHA:276556 |
Kearns-Sayre Syndrome |
|
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block, Sensorineural hearing impairment |
OMIM:530000 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
Paragangliomas 3 |
|
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration |
OMIM:300376 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Large for gestational age, Excessive insulin response to glucagon test, Hep... |
ORPHA:276575 |
Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide con... |
ORPHA:79299 |
Insulinoma |
|
Pituitary prolactin cell adenoma, Increased body weight, Fasting hyperinsulinemia, Recurrent hypo... |
ORPHA:97279 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Congestive heart failure, Sensorineural hearing impairment, Optic atrophy, Paroxy... |
ORPHA:49827 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Large for gestational age, Excessive insulin response to... |
ORPHA:276580 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Brugada Syndrome 4 |
|
Syncope, Atrial fibrillation, Shortened QT interval |
OMIM:611876 |
Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... |
OMIM:611878 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation |
OMIM:616166 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Gitelman Syndrome |
|
Raynaud phenomenon, Abnormal T-wave, Tinnitus, Syncope, Palpitations, Low-to-normal blood pressur... |
ORPHA:358 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Ventricular tachycardia, Hyperammonemia, Tachycardia, Arrhythmia, Elevated circu... |
ORPHA:26793 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... |
ORPHA:98855 |
Cln3 Disease |
|
Generalized cerebral atrophy/hypoplasia, Bradycardia, T-wave inversion, Optic atrophy, Cerebellar... |
ORPHA:228346 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... |
OMIM:613507 |
Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Vertigo, Congestive heart failure, Paroxysmal v... |
ORPHA:34217 |
Familial Isolated Restrictive Cardiomyopathy |
|
Mitral regurgitation, Syncope, Pulmonary venous hypertension, Tricuspid regurgitation, Supraventr... |
ORPHA:75249 |
Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Arrhythmia, Sudden cardiac death, Congestive heart failure, Cerebral i... |
ORPHA:1880 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Vertigo, Tachycardia |
ORPHA:464453 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Congestive heart failure, Increased left ventricular end-diastolic vo... |
OMIM:613424 |
Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Atrioventricular b... |
ORPHA:398124 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Hyperlipid... |
ORPHA:31825 |
Paragangliomas 1 |
|
Conductive hearing impairment, Palpitations, Hypertension associated with pheochromocytoma, Tachy... |
OMIM:168000 |
Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Prolonged QTc interval, Ventricular tachycardia, Hyperammonemia, Neurodegeneratio... |
OMIM:616878 |
Illum Syndrome |
|
Bradycardia, Calcinosis |
OMIM:208155 |
Histiocytoid Cardiomyopathy |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Atrial fibrillation, Supraventricular ta... |
ORPHA:137675 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... |
ORPHA:98853 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Tinnitus, Hypertension, Intracranial hemorrhage, Second degree a... |
ORPHA:369929 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Syncope, Palpitations, Increased C-peptide level, Ta... |
ORPHA:324575 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Congestive heart failure, Dilated cardiomyopathy |
OMIM:605676 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, El... |
OMIM:255160 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Failure to thrive |
OMIM:238340 |
Non-Syndromic Genetic Deafness |
|
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... |
ORPHA:87884 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... |
ORPHA:1329 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Peripartum Cardiomyopathy |
|
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... |
ORPHA:563 |
Glossopharyngeal Neuralgia |
|
Ear pain, Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradyca... |
ORPHA:221098 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... |
ORPHA:98863 |
Hereditary Coproporphyria |
|
Long hairs growing from helix of pinna, Tachycardia, Hyponatremia, Abnormal circulating porphyrin... |
ORPHA:79273 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia,... |
OMIM:145600 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... |
OMIM:608751 |
Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... |
OMIM:609040 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:188580 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the twelfth cranial nerve, Tinnitus, Functional abnormality of the inner ear, Cran... |
ORPHA:268882 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Hypsarrhythmia, Cerebral atrophy, Leg dystonia, EEG abnormality, Atrophy/Degeneration affecting t... |
ORPHA:565624 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Arrhythmia, Hypertension, Congestive heart failure, Sen... |
ORPHA:225 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Bilateral sensorineural hearing impairment, Arrhythmia, Hypertens... |
OMIM:540000 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Cerebral atrophy, Cerebellar atrophy, Opisthotonus, Corpus callo... |
OMIM:619272 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Atrial fibrillation, Orthostatic hypotension, Hypomagnesemia |
OMIM:223360 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... |
ORPHA:1677 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Optic disc pallor, Tachycardia, Cerebellar atrophy, Interictal EEG abnormality |
ORPHA:79264 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Hypokalemia |
OMIM:613239 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Conductive hearing impairment, Cerebral hemorrhage, Sinus tachycardia, Palpitation... |
ORPHA:276621 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Arrhythmia, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment,... |
OMIM:618098 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
Wolfram-Like Syndrome |
|
Delayed puberty, Abnormal pinna morphology, Diabetes mellitus, Primary gonadal insufficiency, Glu... |
ORPHA:411590 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral atrophy, Failure to thrive, Sensorineural hearing impairment, Optic atrophy, Cerebellar ... |
OMIM:300475 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Elevated circulating creatine kinase concentration, Dilate... |
ORPHA:206559 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Cardiomyopathy, Hearing impairment |
ORPHA:329336 |
Fixed Subaortic Stenosis |
|
Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, L... |
ORPHA:3092 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Palpitations, Hypertension, Tremor, Congestive heart failure, Atrial fibrillation |
ORPHA:525731 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase concentration, Di... |
OMIM:300842 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Hypsarrhythmia, Cerebral atrophy, Bilateral sensorineural hearing impairment, Generalized dystoni... |
OMIM:618321 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... |
ORPHA:79644 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
Snakebite Envenomation |
|
Hypotension, Cardiogenic shock, Intracranial hemorrhage, Cerebral ischemia, Myocardial infarction... |
ORPHA:449285 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Arrhythmia, Cardiomyopathy, Hypertension, Sensorineural hearing impairment |
ORPHA:3222 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Decreased body weight, Atrophy/Degeneration affecting the br... |
ORPHA:99852 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Bradycardi... |
OMIM:613327 |
Ethylene Glycol Poisoning |
|
Hypotension, Tachycardia, Hypertension, Hyperkalemia, Facial palsy, Congestive heart failure, Sho... |
ORPHA:31826 |
Rigid Spine Syndrome |
|
Cardiac conduction abnormality |
ORPHA:97244 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Hype... |
OMIM:171420 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure, Increased total bilirubin |
ORPHA:90037 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Capillary leak,... |
ORPHA:542323 |
Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
Thyrotoxic Periodic Paralysis |
|
Palpitations, Impaired myocardial contractility, Second degree atrioventricular block, Transient ... |
ORPHA:79102 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Reduced left ventricular ejection fraction, Facial diplegia, Arrhythmia, Palpitations, Elevated c... |
ORPHA:254892 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Axial dystonia, Limb tremor, Focal dystonia, Writer's cramp, Head tremor, Supraventr... |
ORPHA:420492 |
Refsum Disease |
|
Heart block, Cardiomyopathy, Sensorineural hearing impairment |
ORPHA:773 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Mitral regurgitation, Telangiectasia of the skin, Arrhy... |
ORPHA:324 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Adult onset sensorineural hearing impairment, Decreased nerve conduction velocity, Sensor... |
ORPHA:1368 |
Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulat... |
OMIM:232300 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Abnormal circulating protein concentration, Elevated carcinoembryonic antigen level |
ORPHA:264675 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia, Exaggerated startle response |
OMIM:608800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... |
OMIM:261740 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Elevated circulating creatine kinase concentration, Persistent fetal circulation, Hy... |
OMIM:618775 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Pulmonary arterial hypertension, EEG abnormality, Hypertension, Second degree atrioventricular bl... |
OMIM:617021 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Ventricular tachycardia, Elevated circulating creatine kinase concentration, Hyperammonemia, Dila... |
OMIM:600649 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:300695 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Pancreatitis, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hepatic stea... |
ORPHA:79084 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Increased body weight, Glycosuria, Pancreatic islet-... |
ORPHA:263455 |
Mercury Poisoning |
|
Hypotension, Hypertension, Hypokalemia, Tremor, Tachycardia, Dystonia |
ORPHA:330021 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, Sensorineural he... |
ORPHA:1215 |
Myotonic Dystrophy 2 |
|
Palpitations, Elevated circulating creatine kinase concentration, Premature ventricular contracti... |
OMIM:602668 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Congenital sensorineural hearing impairment, Hyperinsulinemia, Failure to thrive |
OMIM:606528 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Sensorineural hearing impairment |
ORPHA:85297 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Hearing impairment, Progressive sensorineural hearing impairment,... |
OMIM:601338 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Highly elevated creatine kinase, Elevated circulating creatine kinase concentration,... |
ORPHA:368 |
Infantile Cerebellar-Retinal Degeneration |
|
Decreased body weight, Athetosis, Failure to thrive, Sensorineural hearing impairment, Optic atro... |
OMIM:614559 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia, Decreased nerve conduction velocity |
ORPHA:99944 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Sensorineural hearing impairment, Hypertrophic cardiomyopathy |
OMIM:615440 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Increased circulating free fatty acid level, Hypsarrhythmia, Dilated cardiomyopathy |
OMIM:610768 |
Retinitis Pigmentosa |
|
Conductive hearing impairment, Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Sensori... |
ORPHA:791 |
Tularemia |
|
Tachycardia, Otitis media |
ORPHA:3392 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71526 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Conductive hearing impairment, Cerebral hemorrhage, Sinus tachycardia, Palpitation... |
ORPHA:29072 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment |
OMIM:618915 |
Infantile Refsum Disease |
|
Elevated circulating phytanic acid concentration, Arrhythmia, Cardiomyopathy, Hearing impairment,... |
ORPHA:772 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... |
OMIM:614473 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Tremor, Facia... |
OMIM:164310 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Low-set ears, Wolff-Parkinson-White syndrome, Posteriorly rotated ears, Hyperalaninemia, Hypertro... |
OMIM:618378 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... |
ORPHA:216694 |
Eisenmenger Syndrome |
|
Abnormal B-type natriuretic peptide concentration, Tricuspid regurgitation, Supraventricular arrh... |
ORPHA:97214 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Pseudo-Torch Syndrome 2 |
|
Bradycardia, Polymicrogyria, Cerebral hemorrhage, Gray matter heterotopia |
OMIM:617397 |
Neuroleptic Malignant Syndrome |
|
Hypernatremia, Hyperuricemia, Hypotension, Arrhythmia, Hypertension, Abnormal autonomic nervous s... |
ORPHA:94093 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Low-set ears, Abnorm... |
ORPHA:37553 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm... |
OMIM:617519 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Hypertension, Opisthotonus, Tachycardia |
OMIM:184850 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Low-set ears, Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypop... |
ORPHA:65288 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, M... |
ORPHA:324410 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Small for gestational age, Hypergalactosemia, Hepatomegaly, Increased level o... |
ORPHA:79237 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Elevated circulating creatine kinase concentration, Supraventricular arrhythm... |
OMIM:611773 |
Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Pulmonic stenosis, Hypocalcemia, Heart murmur, Tachycardia |
ORPHA:3426 |
16P12.1P12.3 Triplication Syndrome |
|
Low-set ears, Tachycardia, Large earlobe |
ORPHA:485405 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
Relapsing Fever |
|
Hypotension, Increased total bilirubin, Elevated circulating C-reactive protein concentration, Ep... |
ORPHA:91547 |
Paragangliomas 4 |
|
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Bdv Syndrome |
|
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... |
OMIM:619326 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Left ventricular systolic dysfunction, Hypercholesterolemia, Facial dipleg... |
ORPHA:273 |
Perlman Syndrome |
|
Low-set ears, Cryptorchidism, Posteriorly rotated ears, Hepatomegaly, Hyperinsulinemia, Abnormal ... |
ORPHA:2849 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Hypertension, Second degree atrioventricular block, Hypokalemia,... |
OMIM:615474 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Naxos Disease |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palpitations, Arrhythmia, Sudde... |
OMIM:601214 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Pachygyria, Atrioventricular block |
ORPHA:93317 |
Donohue Syndrome |
|
Fasting hypoglycemia, Low-set ears, Cholestasis, Postprandial hyperglycemia, Pancreatic islet-cel... |
OMIM:246200 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Mitral regurgitation, Arrhythmia, Palpitations, Aortic re... |
ORPHA:75566 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... |
ORPHA:3085 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Opisthotonus, Internal hemorrhage |
ORPHA:335 |
Partial Atrioventricular Septal Defect |
|
Mitral regurgitation, Syncope, Palpitations, Transient ischemic attack, Angina pectoris, Aortic v... |
ORPHA:1330 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Left ventricular outflow tract obstruction, Cardiac shunt, Cong... |
ORPHA:860 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Optic neuropathy, Intermittent claudication, Arterial occlusion, Atrioventric... |
OMIM:259900 |
Familial Isolated Dilated Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Dilated car... |
ORPHA:154 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... |
OMIM:620211 |
Superficial Siderosis |
|
Bilateral sensorineural hearing impairment, Atrophy of the spinal cord, Atrophy/Degeneration affe... |
ORPHA:247245 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Middle Ear Neuroendocrine Tumor |
|
Tinnitus, Abnormality of the auditory canal, Facial palsy, Sensorineural hearing impairment, Carc... |
ORPHA:100084 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Global brain atrophy, Absent brainstem auditory responses, Generalized dystonia, Focal ... |
ORPHA:52368 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Necrotizing Enterocolitis |
|
Bradycardia, Hyponatremia, Shock, Hypotension |
ORPHA:391673 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Sinus tachycardia |
ORPHA:171881 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Mitral regurgitation, Global brain atrophy, First degree atrioventricular block, Aortic regurgita... |
OMIM:620066 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Hypertension, Atrioventricular block |
ORPHA:371428 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Hyperammonemia, Decreased plasma free carnitine, Heart block, Arrhythmia, Cardiom... |
ORPHA:228308 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:615821 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Hearing impairment, Peripheral demyelination, Axonal loss, Sensorineural hearing impairment, Dyst... |
OMIM:616684 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
Pheochromocytoma |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Hype... |
OMIM:171300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death |
OMIM:604401 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Hyperuricemia, Diabetes mellitus, Hearing impairment, Abnormality of exocrine pancreas ... |
ORPHA:93111 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... |
OMIM:304400 |
Serotonin Syndrome |
|
Hypotension, Hypertension, Tremor, Tachycardia, Abnormality of the autonomic nervous system |
ORPHA:43116 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hyperphosphatemia, Abnormal left ventricular function, Laryngeal dystonia,... |
ORPHA:36913 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... |
ORPHA:980 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Elevated circulating creatine kinase concentration, Facial pals... |
OMIM:610131 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hypertension, Abnormal autonomic nervous system phy... |
ORPHA:79473 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Hypertension, Bradycardia, Tachycardia, Retinal hemorrhage |
OMIM:614653 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cerebral atrophy, Tremor, Sensorineural hearing impairment, Bradycardia, Dystonia |
OMIM:617248 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Elevated circula... |
ORPHA:308552 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death |
OMIM:612956 |
Sheehan Syndrome |
|
Palpitations, Vertigo, Sensorineural hearing impairment, Orthostatic hypotension, Bradycardia, Hy... |
ORPHA:91355 |
Solitary Fibrous Tumor |
|
Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypophosphatemic ri... |
ORPHA:2126 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Sinus tachycardia |
OMIM:616716 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Conductive hearing impairment, Pulmonic stenosis, Arrhythmia, Posteriorly rotated e... |
OMIM:617877 |
Deafness, Autosomal Dominant 50 |
|
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... |
OMIM:613074 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
Encephalitis Lethargica |
|
Bradycardia, Tremor |
ORPHA:83600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Obesity, Hyperinsulinemia, Hypergonadotropic ... |
ORPHA:66628 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Hyperammonemia, Hypotension, Arrhythmia, Cardiomyopathy, Elevated circul... |
ORPHA:159 |
Cholera |
|
Hypovolemic shock, Abnormal blood ion concentration, Hypotension, Hypokalemia, Hypocalcemia, Tach... |
ORPHA:173 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Elevated circu... |
OMIM:223900 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Optic atrophy, Cardiomyopathy |
ORPHA:1177 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Arrhythmia, Optic atrophy, Sensorineural hearing impairment, Cardiomyopathy |
OMIM:249270 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Arrhythmia, Cardiomyopathy, Congestive heart fa... |
OMIM:266500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Obesity, Hyperinsulinemia, Hypergonadotropic ... |
ORPHA:179494 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, ... |
ORPHA:280356 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bilateral facial palsy, Right bundle branch block, Elevated circulating creatine kinase concentra... |
ORPHA:254361 |
Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Diabetes mellitus, Increa... |
ORPHA:139507 |
Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
Mucopolysaccharidosis Type 3 |
|
Chronic otitis media, Conductive hearing impairment, Abnormality of the middle ear ossicles, Mixe... |
ORPHA:581 |
Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Aborted sudden cardiac death, Elevated circulating creatine kina... |
OMIM:614921 |
Gitelman Syndrome |
|
Ventricular tachycardia, Increased circulating renin level, Hypotension, Palpitations, Hypokalemi... |
OMIM:263800 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Truncal obesity, Nonketotic hy... |
ORPHA:293964 |
Scorpion Envenomation |
|
Myocarditis, Increased circulating creatine kinase MB isoform, Arrhythmia, Hypertension, Increase... |
ORPHA:466677 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Diffuse cerebral atrophy, Decreased nerve conduction velocity, H... |
ORPHA:206436 |
Heart Block, Congenital |
|
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Absent atrioventricular node, Atria... |
OMIM:234700 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Atrophy/Degeneration affecting the brainstem, Elevated circulating creatine kinase concentration,... |
OMIM:616479 |
Bangstad Syndrome |
|
EEG abnormality, Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality... |
ORPHA:1227 |
20P12.3 Microdeletion Syndrome |
|
Thickened helices, Wolff-Parkinson-White syndrome, Microtia |
ORPHA:261295 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Optic atrophy, Tachycardia, Hyponatremia |
ORPHA:1764 |
Malignant Hyperthermia Of Anesthesia |
|
Ventricular tachycardia, High-output congestive heart failure, Supraventricular tachycardia, Hype... |
ORPHA:423 |
Renal Nutcracker Syndrome |
|
Syncope, Tachycardia, Abnormal autonomic nervous system physiology, Orthostatic hypotension |
ORPHA:71273 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Increased circulating thyroglobulin level |
OMIM:609152 |
Cocaine Intoxication |
|
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... |
ORPHA:90068 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia, Facial diplegia |
ORPHA:70 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Optic disc pallor, Tremor, Shortened PR interval, O... |
OMIM:614947 |
Meier-Gorlin Syndrome 7 |
|
Low-set ears, Heart block, Second degree atrioventricular block, Hearing impairment, Sensorineura... |
OMIM:617063 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level |
ORPHA:90673 |
Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... |
ORPHA:97292 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Syncope, Palpitations, Arrhythmia, Abnorm... |
ORPHA:99104 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Mitral regurgitation, Reduced left vent... |
OMIM:613426 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Neonatal hyperbilirubinemia, Hyperuricemia |
ORPHA:348 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Cerebral atrophy, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceridemia,... |
ORPHA:363400 |
Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
Craniometaphyseal Dysplasia |
|
Facial palsy, Abnormal cranial nerve morphology, Conductive hearing impairment, Sensorineural hea... |
ORPHA:1522 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hyperuricemia, Polycystic ovaries, Cirrhosis, Hyperinsulinemia, Hyperglycemia,... |
OMIM:604367 |
Leopard Syndrome 1 |
|
Low-set ears, Protruding ear, Pulmonic stenosis, Posteriorly rotated ears, Bundle branch block, S... |
OMIM:151100 |
Polymyositis |
|
Vasculitis, Arrhythmia, Elevated circulating creatine kinase concentration, Gastrointestinal hemo... |
ORPHA:732 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon, Sensorineural hearing impairment, Peripheral axonal neuropathy |
OMIM:619465 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Branchiootic Syndrome 1 |
|
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... |
OMIM:602588 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Tinnitus, Palpitations, Intracranial hemorrhage, Hypertension, Hypokalemia, Epis... |
ORPHA:231625 |
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Arrhythmia, Hypertension, Elevated circulating creatine kinase co... |
ORPHA:437572 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hearing impairme... |
ORPHA:99885 |
Sepsis In Premature Infants |
|