| Narcolepsy 1 |
|
Narcolepsy, Paroxysmal drowsiness, Abnormal rapid eye movement sleep, Hypnopompic hallucination, ... |
OMIM:161400 |
| Narcolepsy 3 |
|
Narcolepsy, Paroxysmal drowsiness, Abnormal rapid eye movement sleep, Excessive daytime somnolenc... |
OMIM:609039 |
| Narcolepsy 7 |
|
Obstructive sleep apnea, Narcolepsy, Excessive daytime somnolence, Sleep paralysis, Hypnagogic ha... |
OMIM:614250 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Spasticity, Narcolepsy, Abnormal rapid eye movement sleep, Excessive daytime somnolence, Ataxia, ... |
OMIM:604121 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Idiopathic Hypersomnia |
|
Sleep abnormality, Hypersomnia, Hypnopompic hallucination, Excessive daytime somnolence, Sleep pa... |
ORPHA:33208 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... |
ORPHA:45452 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Narcolepsy Type 2 |
|
Insomnia, Excessive daytime somnolence, Sleep abnormality |
ORPHA:83465 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Spasticity, Ataxia |
ORPHA:314404 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hypersomnia, Ataxia |
OMIM:616949 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Dystonia 31 |
|
Difficulty walking, Dysphagia, Abnormal posturing |
OMIM:619565 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Hypoglycemic coma, Polyphag... |
ORPHA:276556 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Hypoglycemic coma, Polyphag... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Hypoglycemic coma, Polyphag... |
ORPHA:276580 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Palpitations, Hypoglycemic coma, Polyphagia, Lethargy, Loss of conscio... |
ORPHA:324575 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Inability to walk, Episodic tachypnea, Inappropriate laughter, Bruxism, Gai... |
ORPHA:3095 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
| Migraine, Familial Hemiplegic, 1 |
|
Drowsiness, Agitation, Coma, Ataxia |
OMIM:141500 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Episodic tachypnea, Apnea, Loss of ambulation, Motor stereotypy, Tach... |
ORPHA:79264 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight, Lethargy, Drowsiness, Tachycardia, Coma |
ORPHA:276608 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
| Sandhoff Disease, Juvenile Form |
|
Insomnia, Failure to thrive, Gait disturbance, Hypersomnia, Ataxia, Dysphagia |
ORPHA:309162 |
| African Trypanosomiasis |
|
Difficulty walking, Arrhythmia, Weight loss, Choreoathetosis, Third degree atrioventricular block... |
ORPHA:3385 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
| Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Niemann-Pick Disease Type C |
|
Narcolepsy, Hypotonia, Limb dystonia, Axial dystonia, Progressive gait ataxia, Lower limb spastic... |
ORPHA:646 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Citrullinemia Type I |
|
Failure to thrive, Lethargy, Loss of consciousness, Tachypnea, Ataxia, Coma |
ORPHA:247525 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... |
ORPHA:240094 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia, Ataxia |
ORPHA:104 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Palpitations, Arrhythmia, Loss of consciousness, Syncope, Drowsiness, Tachy... |
ORPHA:464453 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Anorexia, Lethargy, Weight loss, Tachypnea, Ataxia, Coma |
ORPHA:79242 |
| Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
| Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Tip-toe gait, Inability to walk, Attention deficit hyperactivity disorder, We... |
ORPHA:216866 |
| Huntington Disease-Like 1 |
|
Abnormal posturing, Gait ataxia, Dysmetria, Gait disturbance, Weight loss, EEG abnormality, Brady... |
ORPHA:157941 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
| Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
| Spinocerebellar Ataxia Type 27 |
|
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Gait disturbance, Tr... |
ORPHA:98764 |
| Perry Syndrome |
|
Insomnia, Short stepped shuffling gait, Inappropriate behavior, Akinesia, Disinhibition, Weight l... |
OMIM:168605 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Ataxia, Loss of consciousness, Infantile muscular hypotonia, Drowsiness, Dystonia, Spastic tetrap... |
ORPHA:263410 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
| Hypoglycemia, Leucine-Induced |
|
Coma, Drowsiness, Ataxia |
OMIM:240800 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Coproporphyria, Hereditary |
|
Insomnia, Tachycardia, Hypertension |
OMIM:121300 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... |
ORPHA:1329 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
| Beta-Ketothiolase Deficiency |
|
Reduced consciousness, Hypotension, Anorexia, Agitation, Oral aversion, Tachypnea, Weight loss, E... |
ORPHA:134 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Loss of ambulation, Lethargy, Gait disturbance, Tachypnea, Ataxia, Coma |
OMIM:615838 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Congenital Myopathy 9A |
|
Obesity, Obstructive sleep apnea, Akinesia |
OMIM:618822 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Tachypnea, Bradycardia, Tachycardia, Nasal flaring |
ORPHA:70587 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
| Manganese Poisoning |
|
Akinesia, Inappropriate laughter, Sleep-wake cycle disturbance, Aggressive behavior, Gait disturb... |
ORPHA:306682 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
| Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia, Bradycardia, Tachycardia, Hypertension, Coma |
ORPHA:3299 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia |
OMIM:618235 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Lethargy,... |
OMIM:212138 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Reduced consciousness, Abnormal posturing, Gait ataxia, Gait disturbance, Loss of consciousness, ... |
ORPHA:225147 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia, Bradykinesia |
ORPHA:391411 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... |
ORPHA:90064 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Obstructive sleep apnea, Generalized hypotonia |
ORPHA:293987 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Lethargy, Tachypnea, A... |
OMIM:614299 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
| Mercury Poisoning |
|
Insomnia, Hypotension, Respiratory distress, Loss of consciousness, Anorexia, Tachycardia, Hypert... |
ORPHA:330021 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Failure to thrive, Paroxysmal atrial fibrillation, Loss of ambulation, Paroxysmal atrial tachycar... |
OMIM:613205 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Joubert Syndrome 7 |
|
Episodic tachypnea, Tachypnea, Central apnea, Ataxia |
OMIM:611560 |
| Optic Atrophy 16 |
|
Paroxysmal tachycardia |
OMIM:620629 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Dilated cardiomyopathy, Anorexia, Apnea, Hypoglycemic coma, Lethargy, Weight loss, H... |
ORPHA:20 |
| High Altitude Pulmonary Edema |
|
Anorexia, Tachycardia, Tachypnea, Sleep abnormality |
ORPHA:330012 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Dysphagia, Cardiomyopathy |
OMIM:255100 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... |
OMIM:615373 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Episodic respiratory distress, Tachypnea, Prolonged... |
ORPHA:31826 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Obesity... |
ORPHA:26793 |
| Serotonin Syndrome |
|
Insomnia, Hypotension, Decreased vigilance, Agitation, Tachypnea, Tachycardia, Restlessness, Hype... |
ORPHA:43116 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Epilepsy, Hot Water, 1 |
|
Hypotonia, Drowsiness, Generalized hypotonia |
OMIM:613339 |
| Pyruvate Dehydrogenase Deficiency |
|
Lethargy, Gait disturbance, Tachypnea, Ataxia, Choreoathetosis |
ORPHA:765 |
| Parkinson Disease 17 |
|
Akinesia, Bradykinesia |
OMIM:614203 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia, Orthostatic hypotension due to autonomic dysfunction, Impulsivity, Weig... |
ORPHA:411602 |
| Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Insomnia, Failure to thrive, Respiratory distress, Cerebral ischemia, Agitation, Lethargy, Loss o... |
ORPHA:927 |
| Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Failure to thrive in infancy, Tachycardia, Tachypnea, Respiratory distress |
ORPHA:264675 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension, Motor stereotypy, Coma |
ORPHA:79155 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... |
ORPHA:137675 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... |
OMIM:616812 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress, Aggressive behavior, Lethargy, Tachypnea, Anorexia, Coma |
OMIM:237310 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Truncal ataxia, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Reduced consciousness, Undetectable visual evoked potentials, Episodic ataxia, Gait ataxia, Dysme... |
OMIM:601338 |
| Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Failure to thr... |
ORPHA:99106 |
| Recurrent Respiratory Papillomatosis |
|
Failure to thrive, Respiratory distress, Tachypnea, Syncope, Choking episodes, Dysphagia |
ORPHA:60032 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... |
OMIM:601493 |
| Athyreosis |
|
Hypotonia, Hypersomnia |
ORPHA:95713 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Cereb... |
ORPHA:449285 |
| Inherited Creutzfeldt-Jakob Disease |
|
Insomnia, Gait ataxia, EEG with persistent abnormal rhythmic activity, Hypersomnia, Bradykinesia,... |
ORPHA:282166 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait, Bradykinesia |
OMIM:619911 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Tachypnea, Failure to thrive, Decreased body weight |
OMIM:620085 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Difficulty walking, Respiratory distress, Tachypnea, Ataxia, Choreoathetosis, S... |
OMIM:610978 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Drowsiness, Ataxia |
ORPHA:71518 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
EEG with focal spikes, Gait imbalance, Gait ataxia, Drowsiness |
ORPHA:488635 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Spinocerebellar Ataxia 21 |
|
Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Ataxia, Impulsivity, Progressive cerebel... |
OMIM:607454 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Lethargy, Apnea, Coma |
OMIM:229700 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... |
OMIM:601005 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Failure to thrive, Lethargy, Pulmonary arterial hypertension, Tachypnea |
OMIM:614857 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Gait disturbance, Cardiomyopathy, Bradycardia |
OMIM:609286 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Agitation, Increased body weight, Lethargy, Drowsiness, Tachycardia, Coma |
ORPHA:263455 |
| Propionic Acidemia |
|
Failure to thrive, Cardiomyopathy, Apnea, Lethargy, Tachypnea, Cerebellar hemorrhage, Coma |
OMIM:606054 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Reduced consciousness, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Drow... |
ORPHA:348 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Tachypnea, Cardi... |
ORPHA:860 |
| Corticobasal Syndrome |
|
Akinesia, Gait disturbance, Bradykinesia |
ORPHA:454887 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... |
OMIM:613424 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... |
OMIM:604169 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Respiratory distress, Shock, Lethargy, Tachypnea, Addictive alcohol use |
ORPHA:36238 |
| Kleine-Levin Hibernation Syndrome |
|
Episodic hypersomnia |
OMIM:148840 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... |
OMIM:612158 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Dilated cardiomyopathy |
OMIM:607598 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dilated cardiomyopathy, Gait ataxia, Aggressive behavior, Lethargy, Hypsarrhythmia, Ataxia, Tachy... |
OMIM:618321 |
| Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Leukocytosis, Lethargy, Neutropenia, Bradycardia, Thrombocytopenia |
ORPHA:391673 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Tachypnea, Arrhythmia, Tachycardia, Capi... |
ORPHA:542323 |
| Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea |
OMIM:620203 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
| Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Agitation, Sweet craving, Polyphagia, Repetitive compulsive... |
ORPHA:33543 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Polyphagia, Attention d... |
ORPHA:369873 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Hypersomnia, Bradycardia |
ORPHA:226313 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomyopathy, Gait ataxia, Gait dis... |
OMIM:616878 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiomyopathy, Lethargy, Arrhythmia, Ventricular tachycardia, Coma, Sudden episodic... |
ORPHA:159 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Lethargy, Thrombocytopenia, Bradycardia |
OMIM:617397 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Broad-based gait, Drowsiness, Increased body mass index |
OMIM:614450 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension, Agitation |
OMIM:613870 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Nipah Virus Disease |
|
Respiratory distress, Hypotension, Coma, Anorexia |
ORPHA:99825 |
| Cocaine Intoxication |
|
Reduced consciousness, Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged ... |
ORPHA:90068 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... |
ORPHA:263297 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Bradykinesia, Impulsivity |
ORPHA:240071 |
| Narcolepsy Type 1 |
|
Sleep apnea, NREM parasomnia, Obesity, Restless legs, Attention deficit hyperactivity disorder, A... |
ORPHA:2073 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Akinesia, Bradykinesia |
OMIM:300894 |
| 16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Skin-picking, Attention deficit hyperactivity disorder, Hyperactivity, Nail-bi... |
ORPHA:485405 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea, Pulmonary hemorrhage |
OMIM:616414 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Portal hypertension, Cardiomyopathy, Bradycardia |
OMIM:232500 |
| Joubert Syndrome 3 |
|
Episodic tachypnea, Central apnea, Ataxia |
OMIM:608629 |
| Acute Lung Injury |
|
Diffuse alveolar hemorrhage, Respiratory distress, Shock, Addictive alcohol use, Tachypnea |
ORPHA:178320 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Aggressive behavior, Gait disturbance, Ataxia, Bradykinesia, Dysphagia |
OMIM:606693 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Loss of consciousness, Ventricular fibrillation, Prolong... |
ORPHA:90647 |
| Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
| Cholera |
|
Hypovolemic shock, Hypotension, Lethargy, Loss of consciousness, Tachypnea, Tachycardia |
ORPHA:173 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Dysphagia, Abnormal posturing |
OMIM:128100 |
| Alexander Disease |
|
Dysmetria, Drowsiness, Ataxia |
OMIM:203450 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Obesity |
OMIM:619737 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
| Familial Dysautonomia |
|
Gait disturbance, Orthostatic hypotension, Ataxia, Tachycardia, Hypertension |
ORPHA:1764 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Falls, Hypsarrhythmia, Drowsiness, Ataxia, Bradykinesia, Restlessness, Dysphagia, Choreoathetosis... |
ORPHA:13 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Weight loss, Palpitations |
OMIM:188580 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Naxos Disease |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... |
ORPHA:34217 |
| Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
| Postencephalitic Parkinsonism |
|
Akinesia, Dysphagia, Drowsiness, Bradykinesia |
ORPHA:97349 |
| Acute Disseminated Encephalomyelitis |
|
Ataxia, Interictal EEG abnormality, EEG with focal slow activity, Aggressive behavior, Hypersomni... |
ORPHA:83597 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Dysmetria, Drowsiness, Ataxia |
OMIM:618384 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lethargy, Tachypnea, Sud... |
OMIM:201475 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Neonatal hypotonia, Hypersomnia |
ORPHA:95715 |
| Mohr-Tranebjaerg Syndrome |
|
Dysphagia, Abnormal posturing |
OMIM:304700 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Failure to thrive |
OMIM:263000 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Anorexia, Cardiac arrest |
ORPHA:49827 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Pulmonary arterial hypertension, Hypertension, Small for gestational age |
OMIM:613320 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
| Gitelman Syndrome |
|
Hypotension, Polydipsia, Failure to thrive, Palpitations, Salt craving, Ventricular tachycardia, ... |
OMIM:263800 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
EEG with abnormally slow frequencies, Abnormality of somatosensory evoked potentials, Difficulty ... |
ORPHA:280219 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent fetal circulation, Thrombocytopenia, Bradycardia, Normoch... |
OMIM:618775 |
| Tularemia |
|
Respiratory distress, Tachycardia |
ORPHA:3392 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation |
OMIM:619405 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Akinesia, Failure to thrive, Choreoathetosis |
OMIM:618249 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce... |
OMIM:308240 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Tachypnea, Small for gestational age, Failure to thrive |
OMIM:604320 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... |
OMIM:611705 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
| Hemorrhagic Fever-Renal Syndrome |
|
Insomnia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Respiratory distress, Shock, Palpit... |
ORPHA:340 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Ventricular escape rhythm, Obesity,... |
ORPHA:98855 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Difficulty walking, Hypertrophic cardiomyopathy, Apnea, Apneic episodes in infancy, Drowsi... |
OMIM:618222 |
| Fetal Akinesia Deformation Sequence |
|
Akinesia, Excessive daytime somnolence |
ORPHA:994 |
| Biotinidase Deficiency |
|
Apnea, Lethargy, Tachypnea, Ataxia |
OMIM:253260 |
| Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea, Ataxia |
ORPHA:2318 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Undetectable visual evoked potentials, Dysphagia, Episodic tachypnea |
ORPHA:163961 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysphagia, Dysdiadochokinesis |
ORPHA:247234 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
| Danon Disease |
|
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... |
OMIM:300257 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Perry Syndrome |
|
Hypotension, Weight loss, Sleep abnormality |
ORPHA:178509 |
| Sepsis In Premature Infants |
|
Hypotension, Leukocytosis, Splenomegaly, Neutropenia, Bradycardia, Anemia, Tachycardia, Thrombocy... |
ORPHA:90051 |
| Double Outlet Right Ventricle |
|
Failure to thrive, Heart murmur, Tachypnea, Tachycardia, Pulmonic stenosis |
ORPHA:3426 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Lethargy, Tachypnea, Spastic gait, Coma, Progressive cerebellar ataxia |
ORPHA:415 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Tip-toe gait, Failure to thrive, Anorexia, Recurrent hand flapping, Tac... |
ORPHA:3008 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... |
ORPHA:99103 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... |
ORPHA:466650 |
| Joubert Syndrome |
|
Episodic tachypnea, Apnea, Gait disturbance, Ataxia |
ORPHA:475 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardiomyopathy, Ventri... |
ORPHA:261 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Tip-toe gait, Bradycardia |
ORPHA:565624 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardiomyopathy, Ventri... |
ORPHA:98853 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Congenital Myopathy 12 |
|
Akinesia, Small for gestational age |
OMIM:612540 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
EEG with generalized sharp slow waves, Inability to walk, EEG with focal sharp waves, Hypsarrhyth... |
ORPHA:79243 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Loss of consciousness, Internal hemorrhage |
ORPHA:335 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea |
OMIM:267450 |
| Aceruloplasminemia |
|
Congestive heart failure, Akinesia, Limb ataxia, Gait ataxia, Ataxia |
ORPHA:48818 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Rigidity, Limb hypertonia, Drowsiness, Dystonia, Axial hypotonia, Sleep abnorm... |
ORPHA:70594 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... |
ORPHA:37553 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia, Waddling gait |
OMIM:620351 |
| Cardiogenic Shock |
|
Reduced consciousness, Hypotension, Right ventricular failure, Abnormal left ventricular function... |
ORPHA:97292 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Tip-toe gait, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Obe... |
ORPHA:98863 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia |
ORPHA:368 |
| Neuroleptic Malignant Syndrome |
|
Reduced consciousness, Hypertensive crisis, Hypotension, Pulmonary embolism, Agitation, Arrhythmi... |
ORPHA:94093 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia |
OMIM:613327 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Bradycardia, Myocard... |
ORPHA:319213 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Lethargy, Pulmonary arterial hypertension, Megaloblastic anemia, Neutropenia, Bradyc... |
OMIM:277400 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Failure to thrive, EEG abnormality, Dysphagia, Sleep abnormality |
ORPHA:35708 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Tachypnea, Intercostal retractions, Failure to thrive |
ORPHA:91359 |
| Relapsing Fever |
|
Tachycardia, Hypotension, Epistaxis |
ORPHA:91547 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
| Encephalitis Lethargica |
|
Lethargy, Bradycardia |
ORPHA:83600 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Inability to walk, Hypertrophic cardiomyopathy, Respiratory distress, T... |
ORPHA:505248 |
| Postpoliomyelitis Syndrome |
|
Dysphagia, Hypersomnia, Sleep abnormality |
ORPHA:2942 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Apnea, Lethargy, Tongue thrusting, Athetosis, Choreoathetosis, Sleep abnormality |
OMIM:608643 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Gait ataxia, Dysmetria, Gait disturbance, Dysphagia, Ataxia, Compulsive behaviors, B... |
ORPHA:93256 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia, Small for gestational age, Failure to thrive |
OMIM:619147 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea, Small for gestational age |
OMIM:615160 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia |
ORPHA:90673 |
| Acute Intermittent Porphyria |
|
Insomnia, Pseudobulbar paralysis, Excessive daytime somnolence, Tachycardia, Restlessness, Hypert... |
ORPHA:79276 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Respiratory distress, Shock, Tachypnea, Myocarditis, Tachycardia, Capillary leak |
ORPHA:36234 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... |
ORPHA:2299 |
| Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block |
OMIM:602668 |
| Stiff-Person Syndrome |
|
Tachycardia, Hypertension |
OMIM:184850 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Small for gestational age, Hyperactivity |
OMIM:609152 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Broad-based gait, Wolff-Parkinson-White syn... |
OMIM:619705 |
| Joubert Syndrome 9 |
|
Episodic tachypnea, Apnea |
OMIM:612285 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Porphyria Variegata |
|
Tachycardia, Hypertension, Coma |
ORPHA:79473 |
| Legionnaires Disease |
|
Reduced consciousness, Hypotension, Anorexia, Arrhythmia, Ataxia, Myocarditis, Pericarditis |
ORPHA:549 |
| Poliomyelitis |
|
Hypovolemic shock, Hypotension, Inability to walk, Abnormal motor nerve conduction velocity, Agit... |
ORPHA:2912 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:615821 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Akinesia, Apnea, Decreased body weight, Dysphagia |
OMIM:608013 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Tachypnea, Failure to thrive, Raynaud phenomenon |
OMIM:615934 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Apnea, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension |
OMIM:614653 |
| Plague |
|
Reduced consciousness, Hypotension, Respiratory distress, Arrhythmia, Hematemesis, Anorexia, Tach... |
ORPHA:707 |
| Meningococcal Meningitis |
|
Reduced consciousness, Hypotension, Shock, Lethargy, Drowsiness, Anorexia |
ORPHA:33475 |
| Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Polydipsia, Anorexia, Cachexia, Ataxia, Myocarditis, My... |
ORPHA:3452 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... |
OMIM:613426 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171300 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... |
ORPHA:99827 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
| Joubert Syndrome 1 |
|
Episodic tachypnea, Self-mutilation, Aggressive behavior, Central apnea, Hyperactivity, Ataxia |
OMIM:213300 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Acute Interstitial Pneumonia |
|
Tachypnea, Hypertension |
ORPHA:79126 |
| Alexander Disease |
|
Self-injurious behavior, Hypotension, Failure to thrive, Sleep apnea, Hypertension, Gait disturba... |
ORPHA:58 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Dpagt1-Cdg |
|
Head-banging, Failure to thrive, Inability to walk, EEG with generalized slow activity, Akinesia,... |
ORPHA:86309 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
| Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Inability to walk, Bradycardia |
ORPHA:70 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Tachypnea, Coma |
OMIM:253270 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Avian Influenza |
|
Respiratory distress, Tachypnea, Congestive heart failure |
ORPHA:454836 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Shock, Lymphopeni... |
ORPHA:99826 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Akinesia, Obsessive-compulsive trait, Gait disturbance, Motor tics, Hyperactivity, A... |
OMIM:234200 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Tachypnea, Apnea, Failure to thrive |
OMIM:265120 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Gait ataxia, Dysmetria, Drowsiness, Coma |
OMIM:602481 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Hypersomnia, Drowsiness, Ataxia, EEG abnormality, Coma |
ORPHA:79138 |
| Primary Pulmonary Hypoplasia |
|
Tachypnea, Apnea, Failure to thrive |
ORPHA:2257 |
| Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Falls, Obstructive sleep apnea, Oral-pharyngeal dysphagia, Inability to w... |
ORPHA:273 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
| Orofaciodigital Syndrome Type 6 |
|
Failure to thrive, Episodic tachypnea, Apnea, Gait disturbance, Ataxia |
ORPHA:2754 |
| Joubert Syndrome 2 |
|
Episodic tachypnea, Central apnea, Failure to thrive, Ataxia |
OMIM:608091 |
| Thyroid Hemiagenesis |
|
Hypotonia, Hypersomnia |
ORPHA:95719 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Sleep terror, Wolff-Parkinson-White syndrome, Shortened PR interval, Ataxia, Unsteady ga... |
OMIM:614947 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Arrhythmia, Anorexia, Tachycardia, Hypertension |
ORPHA:139411 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
