Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto... |
OMIM:614860 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormal heart morphology, Clumsiness, Dementia, Abnorma... |
ORPHA:79262 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Depression, Bradykinesia, Dementia, Gait distu... |
OMIM:616710 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je... |
ORPHA:308 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus, Mental deterioration |
OMIM:616187 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Depression, Focal... |
ORPHA:216873 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Optic atrophy, Loss of ambulation, Depression, Bradykin... |
ORPHA:228346 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... |
OMIM:128235 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Hearing impairment, Gait ataxia |
ORPHA:217012 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity |
ORPHA:309169 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... |
OMIM:615768 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... |
ORPHA:101109 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait dist... |
ORPHA:363710 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Tremor, Abnormal pyramidal sign, Prelingual sensorineural he... |
ORPHA:52368 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Spasticity, EEG abnormality, Hypertonia, Cognitive impairment, Arrhythmia |
ORPHA:1314 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R... |
OMIM:617284 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, G... |
ORPHA:206443 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment, EEG with sp... |
OMIM:614018 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Cardiac arrest, Spasticity, Irritability, Bradycardia, Hypert... |
OMIM:618235 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... |
OMIM:615528 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Spasticity, Bradycardia, Dystonia, Hypertrophic cardiomyopathy, Hearin... |
OMIM:616277 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Syncope, Gait disturbance, D... |
OMIM:603472 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental ... |
OMIM:615924 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... |
ORPHA:320401 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul... |
ORPHA:599373 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypsarrhythmia |
OMIM:619561 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... |
OMIM:310300 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... |
ORPHA:240085 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia, Progressive he... |
OMIM:609286 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Steppage gait, H... |
OMIM:609260 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Tremor, Inability to walk, Emotional lability, Macrotia |
OMIM:616269 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... |
ORPHA:324588 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Tremor, Gait disturbance, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:101075 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Hearing impairment |
OMIM:620270 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ... |
ORPHA:71517 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi... |
OMIM:618093 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Abnormal sens... |
ORPHA:276435 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Arrhyt... |
ORPHA:104 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Cardiac arrest, Low-set ears |
OMIM:618951 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Truncal ataxia, Prominent antihelix, Bradycardia, Dystonia, Macrotia, Int... |
OMIM:614407 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Focal EEG discharges with ... |
ORPHA:3077 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... |
ORPHA:1368 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... |
ORPHA:98763 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance, Hearing impairment |
ORPHA:101078 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Hearing impairment, Chorea, Froment sign, Myoclonus, Head tremor, Apraxi... |
OMIM:620158 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, EEG abnormality, Dystonia |
OMIM:612126 |
Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... |
ORPHA:240094 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... |
ORPHA:521406 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... |
ORPHA:98764 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu... |
OMIM:261630 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... |
OMIM:212138 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... |
OMIM:606438 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsines... |
ORPHA:79263 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor... |
ORPHA:2590 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Optic disc pallor, Involuntary movements, Decreased nerve conduction veloc... |
ORPHA:565624 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nervous system electroph... |
OMIM:256731 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, EEG with burst suppression, Babinski sign, Optic atrophy, Hypertonia, Bradycard... |
OMIM:614498 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... |
OMIM:617665 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Spasticity, Bradycardia, Dystonia, Hypertrophi... |
OMIM:614702 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:98933 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... |
OMIM:165300 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... |
ORPHA:227510 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... |
ORPHA:280219 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... |
OMIM:619048 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Abnormal auto... |
ORPHA:3299 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairm... |
ORPHA:542310 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hypertonia, Bradycardia, Dystonia |
OMIM:614654 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... |
OMIM:617225 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis... |
OMIM:616291 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo... |
OMIM:619028 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Spastic Paraparesis And Deafness |
|
Tremor, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity,... |
ORPHA:99014 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:102 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Tremor, Inability to walk, Gait disturbance, Difficult... |
ORPHA:101077 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... |
OMIM:616881 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre... |
ORPHA:420492 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata... |
ORPHA:282166 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycardia, Dystonia, Pulmon... |
OMIM:616299 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ... |
ORPHA:206448 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ... |
ORPHA:254881 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
ORPHA:206594 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,... |
ORPHA:391417 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism... |
ORPHA:79264 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet... |
OMIM:233910 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) |
OMIM:616366 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... |
OMIM:615157 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Abnormal autonomic ne... |
OMIM:300894 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... |
ORPHA:1215 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spast... |
OMIM:617810 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia |
OMIM:619651 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Cardiomyopathy, Difficulty ... |
ORPHA:401768 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tremor, Dysmetria, Depr... |
OMIM:300623 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi... |
OMIM:617013 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610185 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... |
ORPHA:53351 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dementia, Abnormal autonom... |
ORPHA:329284 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Confusion, Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal s... |
OMIM:607483 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Gait ataxia, Depression, Bradyki... |
OMIM:137440 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Tremor, Sensorineural hearing impairment, Hypertension, Hyp... |
ORPHA:1192 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir... |
OMIM:261640 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Dementia, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls |
OMIM:159950 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait |
OMIM:600363 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Sensorineural hea... |
OMIM:302800 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Abnormal auto... |
OMIM:168600 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Steppage gai... |
OMIM:118300 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Oromandibular dystonia, Dysmetria, ... |
ORPHA:101 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... |
OMIM:619738 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Babinski sign... |
ORPHA:93952 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Abnormality of the seventh cranial nerve, Limb fasciculations, Abnorma... |
ORPHA:90117 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Depression, Hypertension, Respiratory paralysis |
OMIM:121300 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Hypertension, Dementia, Shuffling... |
ORPHA:75567 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:330050 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Babinski sign, Optic atrophy, Limb... |
OMIM:619259 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis |
OMIM:619470 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... |
ORPHA:139485 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
Spontaneous Periodic Hypothermia |
|
Tremor, Arrhythmia, Ataxia, Gait disturbance |
ORPHA:29822 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Decreased nerve conduction velocity, ... |
ORPHA:329478 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn... |
ORPHA:240071 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... |
ORPHA:99745 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Shu... |
OMIM:168601 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Hearing impairment, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand tremor, T... |
ORPHA:276198 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears |
ORPHA:477673 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... |
ORPHA:289560 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearin... |
OMIM:312080 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin... |
OMIM:128100 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Optic atrophy, Clumsiness, ... |
ORPHA:137898 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Dementia, Cogniti... |
OMIM:208920 |
Manganese Poisoning |
|
Postural tremor, Confusion, Akinesia, Emotional lability, Depression, Irritability, Bradykinesia,... |
ORPHA:306682 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... |
OMIM:311510 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... |
ORPHA:3095 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Abn... |
ORPHA:363400 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Optic atrophy, Dysmetria, Gait disturbance, Progres... |
OMIM:210000 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Sneddon Syndrome |
|
Tremor, Chorea, Intracranial hemorrhage, Hypertension, Hemiparesis, Dementia, Mental deterioratio... |
ORPHA:820 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Abnormal aut... |
OMIM:616840 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma... |
OMIM:614298 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Dementia, Falls, Cognit... |
ORPHA:683 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Vocal cord paralysis, Jaw claudication, Depression, Abnormal glossopha... |
ORPHA:221098 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... |
ORPHA:247234 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Sinus tachycardia |
OMIM:616716 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic tetraplegia, Opisthotonus, Hyps... |
OMIM:220120 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Progressive neurologic deterioration, Babinski sign, Focal dystonia, Spastic dys... |
ORPHA:447757 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity |
ORPHA:33445 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... |
ORPHA:36387 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
Encephalitis Lethargica |
|
Parkinsonism, Tremor, Bradycardia, Mental deterioration, Lethargy |
ORPHA:83600 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function, Hypoten... |
ORPHA:178509 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Cap Myopathy |
|
Reduced systolic function, Sinus tachycardia |
ORPHA:171881 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Conotruncal defect, Microtia, Third degree atrioventricular block, Bradycardia, Bilat... |
ORPHA:40366 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Dyst... |
OMIM:168605 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Hearing impairment, Cardiomegaly, Tremor, Sensorineural hearing impairment, Ab... |
OMIM:105210 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... |
OMIM:183090 |
Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia, Cognitive impairment, Mental deterioration |
ORPHA:3124 |
4H Leukodystrophy |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... |
ORPHA:289494 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Leber Optic Atrophy |
|
Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Dystonia, Arrhythmia |
OMIM:535000 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal... |
ORPHA:324410 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Lower limb spasticity, Prolonged brainstem auditory evoked potentials,... |
ORPHA:206436 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... |
OMIM:613280 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Sensorineural hearing impairment, Bradycardia |
ORPHA:95716 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Tachycardia, Progressive neurologic deterioration |
ORPHA:276608 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... |
ORPHA:70594 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Facial diplegia, Tongue fasciculations, Bradycardia, Difficulty walking, Atria... |
ORPHA:70 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Lethargy |
OMIM:617397 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment, Hearing impairment |
ORPHA:79234 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ventricular septal defect, Ata... |
OMIM:614947 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... |
ORPHA:860 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypertension, Progressive hearing impairment, My... |
ORPHA:97229 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia... |
ORPHA:2828 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul... |
OMIM:607694 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty walking, Oculomotor ap... |
ORPHA:529665 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... |
OMIM:619556 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, G... |
OMIM:618321 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, EEG abnormality, Low-set ears, Spasticity |
OMIM:618718 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Inability to walk, Chorea, Right bundle branch block, Reduced left ve... |
ORPHA:268 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Ment... |
OMIM:619051 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, ... |
OMIM:182410 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Dementia, Low frustra... |
ORPHA:411602 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait di... |
ORPHA:457240 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, Abn... |
ORPHA:1942 |
Cerebrotendinous Xanthomatosis |
|
Progressive psychomotor deterioration, Abnormal pyramidal sign, Abnormal motor evoked potentials,... |
ORPHA:909 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Clonus, Tre... |
OMIM:619424 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Frequent falls, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Tetraplegia, Hypsarrhythmia |
OMIM:610768 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... |
OMIM:618775 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykine... |
ORPHA:225147 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy,... |
OMIM:266500 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic dysarth... |
ORPHA:447753 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Macrotia, Spastic tetraplegia, Cardiomegaly |
OMIM:300886 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h... |
OMIM:619092 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Cho... |
ORPHA:94093 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, ... |
OMIM:616505 |
Ataxia-Telangiectasia |
|
Ataxia, Telangiectasia of the skin, Tremor, Gait disturbance, Cognitive impairment, Spasticity, M... |
ORPHA:100 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Lethargy |
OMIM:600649 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... |
OMIM:619260 |
Serotonin Syndrome |
|
Tachycardia, Confusion, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hypertonia, Myoclon... |
ORPHA:43116 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Sensorineural hearing impairment, Depression, Hyperkinetic movements, Gait disturbance, S... |
OMIM:300957 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Congestive heart fail... |
ORPHA:48818 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ventricular septal defect, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Optic atro... |
OMIM:615673 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Hepatospleno... |
ORPHA:845 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Postlingual sensorineural hearing impairment, Dystonia, Mental deterioration, Progressive... |
OMIM:304700 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor... |
OMIM:612164 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Tremor, Sensorineural hearing impairment, Hemiparesis, Hypertonia... |
OMIM:619737 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Hyperto... |
OMIM:617710 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hearing impairment |
ORPHA:87876 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tremor, I... |
OMIM:218000 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic a... |
ORPHA:90321 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Splenomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairme... |
ORPHA:812 |
Leukoencephalopathy With Ataxia |
|
Optic neuropathy, Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,... |
ORPHA:79254 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hyperte... |
OMIM:614653 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia |
OMIM:613327 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Confusion, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotensi... |
ORPHA:319213 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Gait ataxia, Hypertonia, Lethargy, Ataxia, Facial palsy, Dilated cardiomyopathy, Depressi... |
ORPHA:254892 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Progressive neurologic deterioration, Cardiac conduction abnormality, Tremor, Rigidity, C... |
ORPHA:2131 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens... |
OMIM:609136 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi... |
OMIM:614381 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Clumsiness, Depression, Bradycardia, Attention deficit hyperactivity disorder, Lethargy |
ORPHA:90674 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... |
OMIM:607060 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Stiff-Person Syndrome |
|
Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Depression, Hypertension, Myoc... |
OMIM:184850 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Dysdiadochokinesis, Diffic... |
OMIM:617675 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Heart Block, Congenital |
|
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... |
OMIM:234700 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Cardiomegaly, Progre... |
OMIM:268800 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Cardiomegaly, Inability to walk, Optic atrophy, Lower limb hyp... |
ORPHA:97297 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Hematochezia, Mental deterioration, Memory impairment |
ORPHA:79095 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials |
OMIM:617523 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... |
OMIM:601104 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Confu... |
ORPHA:99827 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Cupped e... |
OMIM:613870 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorrhage, Retinal... |
ORPHA:25 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal ... |
OMIM:606002 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Telangiectasia |
ORPHA:93400 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Tremor, Decreased nerve conduction velocity, Dementia, Gait dis... |
ORPHA:512 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Dementia, Ataxia, Hearing impairment |
OMIM:278760 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Emotional lability, Lethargy |
OMIM:201100 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Splenomegaly, Bradycardia, Hypotension |
ORPHA:90051 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea,... |
OMIM:615356 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... |
ORPHA:3240 |
Cockayne Syndrome A |
|
Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Spl... |
OMIM:216400 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Sensorineural hearing impairment, Hypertonia, Bradycardia, Dystonia |
OMIM:617248 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia, Lethargy, Hepatomegaly |
OMIM:229700 |
Alexander Disease |
|
Ataxia, Clonus, Sudden cardiac death, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetr... |
ORPHA:58 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, EEG... |
ORPHA:98794 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... |
OMIM:617988 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis |
OMIM:613239 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Optic atrophy, Depressio... |
ORPHA:314404 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia |
ORPHA:90673 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ventricular septal defect, Ataxia, Dystonia, Tremor, Congestive heart failu... |
ORPHA:354 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis |
OMIM:619574 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Pulsatile tinnitus, Vocal cord paralysis, Palpitations, Hypertension associated with... |
OMIM:605373 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... |
OMIM:618527 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity |
OMIM:176500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
Mercury Poisoning |
|
Tachycardia, Confusion, Tremor, Hypertension, Hypotension, Dystonia |
ORPHA:330021 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism |
OMIM:614251 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Right hemiplegia, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Loss of ambulation... |
OMIM:607426 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment... |
ORPHA:79330 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy |
OMIM:222300 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... |
ORPHA:99956 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M... |
OMIM:253200 |
Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529799 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona... |
ORPHA:221 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Pulsatile tinnitus, Vocal cord paralysis, Palpitations, Conductive hearing impairmen... |
OMIM:168000 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Progressive neurologic deterioration, Tremor, Lethargy |
ORPHA:263455 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Spl... |
OMIM:133540 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia, Sensorineural hearing impairment |
ORPHA:91355 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokines... |
ORPHA:502423 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Facial palsy, ... |
ORPHA:31826 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... |
OMIM:170390 |
Congenital Heart Defects, Multiple Types, 9 |
|
Pulmonic stenosis, Left axis deviation |
OMIM:620294 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Confusion, Hypovolemia, Capillary leak, Subconjunctival hemorrh... |
ORPHA:99826 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... |
ORPHA:466768 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... |
ORPHA:79139 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spa... |
ORPHA:2203 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Li... |
ORPHA:572798 |
Joubert Syndrome |
|
Ataxia, Aganglionic megacolon, Situs inversus totalis, Tremor, Gait disturbance, Low-set ears, Oc... |
ORPHA:475 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Tremor, Hypertension, Arrhythmia, Low-set ears, Hypertrophic cardiomyopathy, Intention tr... |
OMIM:614052 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Optic atrophy, Intestinal bleedi... |
OMIM:612199 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Splenomegaly, Congestive heart failure, Unsteady gait, Dystonia, Spast... |
OMIM:615512 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Lethargy, Sensorineural hearing impairment, Bradycardia |
ORPHA:226307 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Ataxia, Optic neuropathy, Tremor, Dilated cardiomyopathy, Optic atrophy, Concentric... |
OMIM:610505 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... |
ORPHA:358 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Bradycardia |
OMIM:218700 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Tetraplegia, Impaired myocardial... |
ORPHA:79102 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased nerve con... |
OMIM:214500 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Trisomy 10P |
|
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... |
ORPHA:171929 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Depression, Abnormal cranial ner... |
ORPHA:297 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Delirium, Abnormal EKG, Hepatomegaly, Abnormal central motor function, P... |
ORPHA:3385 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, D... |
OMIM:164310 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, ... |
OMIM:208900 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, EEG with generalized slow activity, Ataxia, Akinesia, Tremor... |
ORPHA:86309 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Raynaud phenomenon, Tremor, Hemiplegia/... |
ORPHA:51 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, E... |
ORPHA:1934 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Abnormal heart morphology, Low-set ears, Aortic valve stenos... |
ORPHA:401973 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication |
ORPHA:416 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Hamamy Syndrome |
|
Mitral regurgitation, Prolonged QRS complex |
OMIM:611174 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
Plague |
|
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Unsteady gait, Slurred speech, Endocarditis... |
ORPHA:707 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Scimitar Syndrome |
|
Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension |
ORPHA:185 |
Benign Schwannoma |
|
Allodynia, Abnormality of peripheral nervous system electrophysiology |
ORPHA:252164 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Developmental And Epileptic Encephalopathy 24 |
|
Attention deficit hyperactivity disorder |
OMIM:615871 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
|
OMIM:618482 |