| Long Qt Syndrome 11 |
|
Prolonged QTc interval, Syncope |
OMIM:611820 |
| Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
| Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
| Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
| Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
| Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
| Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Involuntary movements, Chorea |
OMIM:616939 |
| Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Limb dystonia, Jerky head movements, Torticollis, Postural tremor, Generalized ... |
ORPHA:98807 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
| Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
| Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Axial hypotonia, Dystonia |
OMIM:618425 |
| Episodic Ataxia, Type 1 |
|
Tremor, Vertigo, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia |
OMIM:160120 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Choreoathetosis, Dy... |
ORPHA:98810 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Axial hypotonia, Hemiballismus |
OMIM:616921 |
| Asperger syndrome susceptibility, X-linked 2 |
|
Abnormal repetitive mannerisms |
OMIM:300497 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Abnormal repetitive mannerisms |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Abnormal repetitive mannerisms |
OMIM:608631 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism, Myoclonus |
OMIM:606840 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Frequent falls, Clonus, Hypotonia, Motor tics, Paroxysmal choreoathetosis, Chorea, Myoclonus, Bab... |
OMIM:500003 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Parkinsonism, Ataxia, Chorea, Myoclonus, Choreoathetosis, Dystonia |
OMIM:125370 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:619491 |
| Brugada Syndrome 4 |
|
Syncope, Atrial fibrillation, Shortened QT interval |
OMIM:611876 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Paresthesia, Dystonia, Ataxia, Chorea, Torsion dystonia, Involuntary movements, Choreoathetosis, ... |
ORPHA:98811 |
| Nathalie Syndrome |
|
Abnormal EKG, Hearing impairment |
OMIM:255990 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Axial hypotonia, Hemiballismus |
ORPHA:494526 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
| Neurodegeneration With Brain Iron Accumulation |
|
Spasticity, Abnormality of extrapyramidal motor function, Rigidity, Chorea, Dystonia |
ORPHA:385 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Impaired pain sensation, Hand tremor, Impaired distal vibration sensation, Steppage gait, Sensori... |
OMIM:300905 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Ataxia, Bruxism, Chorea, Axial hypotonia, Abnormal repetitive mannerisms, Dyst... |
OMIM:619150 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... |
ORPHA:216873 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Athetosis, Involuntary movements, Dystonia |
ORPHA:98809 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Hearing impairment, Tremor, Gait ataxia, Impaired vibratory sensation |
ORPHA:217012 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hyperkinetic movements, Ataxia, Clonus, Hypotonia, Oculogyric crisis, Abnormality of extrapyramid... |
ORPHA:13 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Chorea, Dystonia, Stereotypical hand wringing |
OMIM:618760 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Parkinsonism, Chorea |
OMIM:616922 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms |
OMIM:617787 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Hypotonia, Generalized hypotonia, Chorea |
OMIM:614055 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Spasticity, Parkinsonism, Apraxia, Generalized dystonia, Opisthotonus, Axial hypotonia, Spastic t... |
OMIM:619653 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602086 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
| Autism, Susceptibility To, X-Linked 3 |
|
Abnormal repetitive mannerisms |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Abnormal repetitive mannerisms |
OMIM:300425 |
| Dystonia 11, Myoclonic |
|
Torticollis, Hypotonia, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Hypotonia, Spasticity, Generalized hypotonia |
OMIM:615493 |
| Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Positive Romberg sign, Abnormal vestibular function,... |
OMIM:616515 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Spastic gait, Ataxia, Clonus, Lower limb spasticity, Spastic dysarthria, Retrocollis,... |
OMIM:205100 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Abnormal repetitive mannerisms, Spastic diplegia, Choreoathetosis, Axial hypotonia |
OMIM:617270 |
| Chorea, Benign Hereditary |
|
Frequent falls, Chorea |
OMIM:118700 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged v... |
OMIM:600791 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Hyperkinetic movements, Cogwheel rigidity, Hypotonia, Rigidity, Chorea, Myoclonus, Ch... |
OMIM:616981 |
| Spinocerebellar Ataxia 43 |
|
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602087 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements, Limb ataxia, Lower limb spasticity, Spastic dysarthria, Impaired propriocep... |
ORPHA:251282 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Hypotonia, Ataxia |
OMIM:213000 |
| Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Hypotonia, Spasticity |
ORPHA:356996 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Spasticity, Ataxia, Abnormality of extrapyramidal motor function, Chorea, Babinski sign |
OMIM:258501 |
| Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Chorea, Resting tremor, Myoclonus, Axial hypotonia, Dystonia |
ORPHA:324588 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... |
OMIM:614561 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... |
OMIM:601494 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea |
ORPHA:494541 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Cogwheel rigidity, Paraparesis, Truncal ti... |
OMIM:607483 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Hypotonia, Chorea, Myoclonus, Resting tremor, Axial hypotonia, Involuntary movem... |
OMIM:606703 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hypotonia, Abnormal head movements, Abnormality of extrapyramidal motor function, Progres... |
ORPHA:382 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... |
OMIM:113900 |
| Sydenham Chorea |
|
Hemiballismus, Generalized hypotonia, Compulsive behaviors, Chorea |
ORPHA:306731 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... |
OMIM:613135 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Athetosis, Involuntary movements, Choreoathetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements |
OMIM:611092 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Parkinsonism, Hand tremor, Postural tremor, Motor tics, Chorea, Athetosis |
OMIM:615483 |
| Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Profound sensorineural hearing impairment, Bilateral sensorineural hearin... |
ORPHA:90647 |
| Cataract 11, Multiple Types |
|
Hypertonia, Chorea |
OMIM:610623 |
| Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Abnormal autonomic nervous ... |
ORPHA:101016 |
| Autism |
|
Abnormal repetitive mannerisms |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Abnormal repetitive mannerisms |
OMIM:607373 |
| Spinocerebellar Ataxia 40 |
|
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, S... |
OMIM:616053 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Ataxia, Cogwheel rigidity, Motor tics, Chorea, Bradykinesia, Intention tremor, Myoc... |
OMIM:619725 |
| Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Vertigo, Bundle branch block, Congestive heart failure |
ORPHA:871 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... |
OMIM:617047 |
| Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... |
OMIM:163800 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Hypotonia, Involuntary movements |
OMIM:617171 |
| Huntington Disease-Like 2 |
|
Parkinsonism, Involuntary movements, Dystonia, Chorea |
ORPHA:98934 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... |
ORPHA:363710 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Hypotonia, Generalized dystoni... |
OMIM:617013 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... |
ORPHA:71277 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Axial hypotonia, Compulsive behaviors, Dystonia |
OMIM:619651 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Spasticity, Hyperkinetic movements, Bruxism, Hypotonia, Oculogyric crisis, Chorea, Myoclonus, Ste... |
OMIM:614254 |
| Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Hypotonia, Chorea, Myoclonus, Axial hypotonia, Dystonia |
OMIM:616139 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Parkinsonism, Ataxia, Clonus, Lower limb spasticity, Axial dystonia, Retrocollis, Head titubation... |
ORPHA:300605 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... |
OMIM:609129 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Ataxia, Hearing impairment |
OMIM:271250 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Babinski sign, Ataxia, Tremor |
OMIM:611105 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Hypotonia, Stereotypical hand wringing |
OMIM:619561 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Torticollis, Dystonia, Writer's cramp, Myoclonus, Compulsive behaviors, Spinal my... |
ORPHA:36899 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Inability to walk |
OMIM:606053 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... |
OMIM:213600 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Chorea, Gait ataxia, Stereotypical hand wringing, Abnormal repetitive mannerisms, Com... |
OMIM:618917 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia |
ORPHA:3233 |
| Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Axial hypotonia, Dystonia |
OMIM:619647 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Generalized hypotonia |
OMIM:264070 |
| Dystonia 6, Torsion |
|
Limb dystonia, Torticollis, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Myoclonus... |
OMIM:602629 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Pendred Syndrome |
|
Goiter, Enlarged vestibular aqueduct, Abnormality of the inner ear, Hyperparathyroidism, Thyroid ... |
ORPHA:705 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Unsteady gait, Ataxia, Tremor |
OMIM:615945 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
| Spinocerebellar Ataxia Type 2 |
|
Parkinsonism, Kinetic tremor, Progressive cerebellar ataxia, Postural tremor, Generalized hypoton... |
ORPHA:98756 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia |
OMIM:608636 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Jerky head movements, Somatic sensory dy... |
ORPHA:240103 |
| Infantile Dystonia-Parkinsonism |
|
Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Oculogyric crisis, Chorea, Bradykinesia, ... |
ORPHA:238455 |
| Snijders Blok-Fisher Syndrome |
|
Spasticity, Choreoathetosis, Generalized hypotonia, Opisthotonus, Facial hypotonia |
OMIM:618604 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Neonatal hypotonia, Action tremor, Ataxia |
OMIM:300703 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Somatic sensory dysfunction, Difficulty walking |
ORPHA:423296 |
| Autosomal Spastic Paraplegia Type 72 |
|
Spastic gait, Impaired vibration sensation at ankles, Postural tremor, Rigidity |
ORPHA:401849 |
| Spinocerebellar Ataxia 50 |
|
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor |
OMIM:620158 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Generalized hypotonia, Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Vertigo, Ataxia |
ORPHA:71518 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... |
OMIM:164500 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Abnormal pyramidal sign, Parkinsonism, Hypoesthesia, Ataxia, Chorea, Bradykinesia, Slurred speech... |
OMIM:618317 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Progressive gait ataxi... |
ORPHA:2589 |
| N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia, Broad-based gait |
OMIM:614063 |
| Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment, Hearing impairment |
OMIM:614369 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Axial hypotonia, Hypertonia, Opisthotonus |
OMIM:616896 |
| Rett Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Dystonia, Bruxism, EEG abnormality, Cachexia, Gait aprax... |
OMIM:312750 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
| Huntington Disease-Like 3 |
|
Spasticity, Abnormal pyramidal sign, Abnormal head movements, Progressive gait ataxia, Abnormalit... |
ORPHA:157946 |
| Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Ataxia, Isometric tremor, Upper limb postural tremor, Ga... |
ORPHA:101110 |
| Deafness, Autosomal Recessive 9 |
|
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Spasticity, Limb hypertonia, Clonus, Hypotonia, Chorea, Opisthotonus, Axial hypotonia, Babinski s... |
OMIM:612389 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... |
ORPHA:99106 |
| Branchiootorenal Syndrome 1 |
|
High palate, Cholesteatoma, Conductive hearing impairment, Incomplete partition of the cochlea ty... |
OMIM:113650 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Developmental And Epileptic Encephalopathy 6B |
|
Hyperkinetic movements, Ataxia, Hypotonia, Chorea, Myoclonus, Axial hypotonia, Abnormal repetitiv... |
OMIM:619317 |
| Spinocerebellar Ataxia 17 |
|
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Rigidity, Chorea, Bradykinesia, Intention tremor, Gai... |
OMIM:607136 |
| Ravine Syndrome |
|
Ataxia, Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked... |
ORPHA:99852 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Spastic tetraplegia, Appendicular spasticity, Clonus |
OMIM:613811 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Impaired distal vibration sensation, Cogwheel rigidity, Parkinsonism wit... |
OMIM:128230 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Ataxia, Morning myoclonic jerks, Intention tremor, Myoclonus |
ORPHA:308 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:607688 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Broad-based gait |
OMIM:617862 |
| Choreoathetosis, Familial Inverted |
|
Abnormal pyramidal sign, Progressive choreoathetosis, Rigidity |
OMIM:118750 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Generalized hypotonia, Chorea, Gait ataxia, Axial hypotonia, Dysmetria |
OMIM:618501 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia |
ORPHA:309169 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms |
OMIM:300271 |
| Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria |
OMIM:618093 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... |
ORPHA:53351 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Bilateral sensorineural hearing impairment, Atrophy/Degeneration affecting the brainstem,... |
ORPHA:66634 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Spasticity, Hypotonia, Abnormal repetitive mannerisms, Involuntary movements, Dystonia |
OMIM:617820 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Ataxia, Chorea |
OMIM:618683 |
| Huntington Disease-Like 1 |
|
Dysmetria, Incoordination, Rigidity, Chorea |
OMIM:603218 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Dystonia |
OMIM:104290 |
| Familial Hyperaldosteronism Type Iii |
|
Tinnitus, Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Polydipsia, Epista... |
ORPHA:251274 |
| Huntington Disease |
|
Gait ataxia, Chorea, Rigidity, Bradykinesia |
OMIM:143100 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... |
OMIM:108900 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... |
OMIM:606159 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... |
OMIM:607317 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Precocious puberty |
ORPHA:79414 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
| Spinocerebellar Ataxia Type 17 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Ataxia, Blepharospasm, Rigidity, ... |
ORPHA:98759 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Spastic paraplegia, Episodic ataxia, Choreoathetosis, Dysto... |
ORPHA:53583 |
| Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Rigidity, Chorea, Bradykinesia, Gait ataxia, Oral motor hy... |
ORPHA:248111 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Generalized hypotonia, Spastic diplegia |
OMIM:617830 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Nonprogressive cerebellar ataxia, Ataxia, Sudden cardiac death, Fai... |
OMIM:610198 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... |
ORPHA:397946 |
| Episodic Ataxia Type 4 |
|
Frequent falls, Ataxia, Abnormal head movements, Vertigo, Incoordination |
ORPHA:79136 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor, Dystonia |
OMIM:606438 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Paroxysmal dyskinesia, Generalized hypotonia, Chorea |
ORPHA:79137 |
| Developmental And Epileptic Encephalopathy 101 |
|
Axial hypotonia, Hypotonia, Opisthotonus, Myoclonus |
OMIM:619814 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Agitation, Prominent ear helix, Recurrent hand flapping, Stereotypical body rockin... |
ORPHA:100973 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... |
ORPHA:542306 |
| Dystonia 23 |
|
Limb dystonia, Torticollis, Axial dystonia, Writer's cramp, Head tremor, Myoclonus |
OMIM:614860 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cardiomyopathy, Progres... |
ORPHA:1177 |
| Developmental And Epileptic Encephalopathy 84 |
|
Spasticity, Generalized hypotonia, Chorea, Opisthotonus, Axial hypotonia, Babinski sign, Dystonia |
OMIM:618792 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Hypotonia, Ataxia |
OMIM:618709 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Generalized hypotonia, R... |
ORPHA:98763 |
| D-Glyceric Aciduria |
|
Spasticity, Spastic tetraplegia, Hypotonia, Neonatal hypotonia, Opisthotonus, Tongue thrusting, M... |
OMIM:220120 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Limb hypertonia, Hypotonia, Generalized hypotonia, Gait ataxia, Opisthotonus, Tongue thru... |
OMIM:619580 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Spastic tetraplegia, Limb dystonia, Clonus, Babinski sign, Hypotonia, Opisthotonus, M... |
OMIM:619847 |
| Developmental And Epileptic Encephalopathy 78 |
|
Spasticity, Hypotonia, Generalized hypotonia, Chorea, Neonatal hypotonia, Cerebral palsy |
OMIM:618557 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia |
OMIM:300376 |
| Alternating Hemiplegia Of Childhood 2 |
|
Ataxia, Hemiplegia, Episodic quadriplegia, Tetraplegia, Choreoathetosis, Dystonia |
OMIM:614820 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Attention deficit hyperactivity disorder, Dysphagia, Abnorma... |
ORPHA:52368 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Generalized neo... |
ORPHA:314978 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia |
OMIM:619738 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea |
OMIM:607674 |
| Baker-Gordon Syndrome |
|
Athetoid cerebral palsy, Hyperkinetic movements, Ataxia, Neonatal hypotonia, Abnormal repetitive ... |
OMIM:618218 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ataxia, Hearing impairment |
ORPHA:480 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
| Apert Syndrome |
|
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Cleft palate, Narrow palate, Ecto... |
ORPHA:87 |
| Ataxia-Telangiectasia-Like Disorder |
|
Frequent falls, Oculomotor apraxia, Ataxia, Generalized hypotonia, Chorea, Dysdiadochokinesis, Ga... |
ORPHA:251347 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Spasticity, Hyperkinetic movements, Generalized hypotonia, Chorea, Athetosis, Involuntary movemen... |
OMIM:617493 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Dystonia, Gait disturbance, Attention deficit hyperactivity disorder, Aganglionic megacolon, Fail... |
OMIM:300352 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Hearing impairment, Tremor |
ORPHA:101075 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Opisthotonus |
OMIM:250800 |
| Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... |
OMIM:619274 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
| Dystonia 15, Myoclonic |
|
Dystonia, Myoclonus, Writer's cramp |
OMIM:607488 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... |
OMIM:601005 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
| Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Low-set ears, Abnorm... |
ORPHA:37553 |
| Deafness, Autosomal Dominant 9 |
|
Tinnitus, Abnormality of the vestibulocochlear nerve, Vertigo, Cochlear degeneration, Postlingual... |
OMIM:601369 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... |
ORPHA:79263 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Frequent falls, Oculomotor apraxia, Ataxia, Lower limb spasticity, Hypotonia, Chorea, Dysdiadocho... |
OMIM:604391 |
| Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Dystonia, Chorea |
OMIM:615473 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms, Hypotonia, Appendicular hypotonia, Axial hypotonia |
OMIM:620033 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Difficulty walking, Pseudobulbar paralysis, Impaired proprioception, Loss of... |
OMIM:613908 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:609425 |
| Lichtenstein-Knorr Syndrome |
|
Limb ataxia, Ataxia, Vestibular hypofunction, Dysdiadochokinesis, Gait ataxia, Sensorineural hear... |
OMIM:616291 |
| Striatonigral Degeneration, Infantile |
|
Spasticity, Choreoathetosis, Dystonia |
OMIM:271930 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Hypotonia, Spastic tetraparesis, Tremor |
OMIM:619470 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Low-set ears, Hyperactivity |
ORPHA:436151 |
| Pendred Syndrome |
|
Goiter, Cochlear malformation, Compensated hypothyroidism, Thyroid carcinoma, Abnormal vestibular... |
OMIM:274600 |
| Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Increased QRS voltage, Left ventricular hypertrophy |
OMIM:619040 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Prolonged QTc interval, Ventricular tachycardia, Neurodegeneration, Cerebral atro... |
OMIM:616878 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Impaired vibration sensation in the lower limbs, Tremor, Spastic paraplegia, Spastic gait... |
OMIM:600363 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Abnormal repetitive mannerisms, Spastic tetraplegia, Hypertonia |
OMIM:615282 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms |
DECIPHER:8 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Tetraparesis, Hypotonia, Chorea, Opisthotonus, Myoclonus, Severe muscular hypotonia, Dystonia |
OMIM:616672 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Dysmetria |
OMIM:617917 |
| Huntington Disease-Like 1 |
|
Frequent falls, Jerky head movements, Simultanapraxia, Clumsiness, Abnormal head movements, Gener... |
ORPHA:157941 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Postural tremor, ... |
ORPHA:98762 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Dis... |
OMIM:601382 |
| Corticobasal Syndrome |
|
Limb myoclonus, Limb dystonia, Parkinsonism, Somatic sensory dysfunction, Oromotor apraxia, Speec... |
ORPHA:454887 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypotonia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Distal sensory impairment, Hand tremor, Difficulty walking, Steppage gait, Impaired vibration sen... |
ORPHA:352675 |
| Glutaric Acidemia I |
|
Hypotonia, Generalized hypotonia, Spastic diplegia, Rigidity, Opisthotonus, Choreoathetosis, Dyst... |
OMIM:231670 |
| Gordon Holmes Syndrome |
|
Ataxia, Chorea |
OMIM:212840 |
| Distal Deletion 10Q |
|
Anal atresia, High palate, Low-set ears, Facial diplegia, Protruding ear, Cochlear malformation, ... |
ORPHA:96148 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Hearing impairment, Tremor |
ORPHA:101078 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Parkinsonism, Limb ataxia, Limb dystonia, Kinetic tremor, Rigidity, Head tremor, Gait... |
ORPHA:101109 |
| Congenital Disorder Of Glycosylation, Type Ip |
|
Neonatal hypotonia, Hypotonia, Opisthotonus |
OMIM:613661 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
High palate, Gastroesophageal reflux, Absent brainstem auditory responses, EEG abnormality, Dysph... |
OMIM:617519 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis, Paroxysmal... |
OMIM:606777 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
| Tetanus |
|
Spasticity of pharyngeal muscles, Rigidity, Tremor, Opisthotonus, Hypertonia |
ORPHA:3299 |
| Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... |
ORPHA:99657 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Ataxia, Clumsiness, Hypotonia, Generalized hypotonia, Gait ataxia, Intention tremor, ... |
OMIM:608029 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Global brain atrophy, Ataxia, Arrhythmia, Dysphagia, Sensorineural hearing impairme... |
ORPHA:480864 |
| Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hypotonia, Generalized hypotonia, Ataxia |
OMIM:239500 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Bruxism, Ankle clonus, Tremor, Bradykinesia, Axial hypotonia... |
OMIM:617435 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Opisthotonus, Extrapyramidal dyskinesia, Dystonia, Chorea |
OMIM:277470 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia, Impaired dista... |
OMIM:610245 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
| Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment |
OMIM:618915 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Tremor, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Abnormality of extrapyramidal motor fu... |
OMIM:617672 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Distal sensory impairment, Tinnitus, Unsteady gait, Abnormal middle ear reflexes, Hearing impairm... |
OMIM:300614 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia |
OMIM:615924 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Arrhythmia, Prolonged QT interval |
ORPHA:2151 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Spasticity, Ataxia, Blepharospasm, Clumsiness, Hypotonia, Rigidity, Chorea, Athetosis, Myoclonus,... |
OMIM:617282 |
| Developmental And Epileptic Encephalopathy 110 |
|
Spasticity, Bruxism, Hypotonia, Pain insensitivity, Chorea, Axial hypotonia |
OMIM:620149 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Ataxia, Tremor, Large fleshy ears, Gait ataxia, Myoclonus, Abnormal repetitive mann... |
OMIM:619092 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Oculomotor apraxia, Ataxia, Hypotonia, Spastic paraplegia, Opisthotonus, Myoclonus, T... |
OMIM:614969 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Hypotonia, Athetosis, Choreoathetosis, Chorea |
OMIM:309541 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Hand tremor, Lower limb spasticity |
ORPHA:401835 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Infantile axial hypotonia, Tremor, Bradykin... |
ORPHA:521406 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Arrhythmia, Palpitation... |
ORPHA:263297 |
| Developmental And Epileptic Encephalopathy 103 |
|
Spastic tetraplegia, Eyelid myoclonus, Ataxia, Hypotonia, Opisthotonus |
OMIM:619913 |
| Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... |
ORPHA:99 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Abnormal pyramidal sign, Impaired pain sensation, Infantile muscular hypotonia, Limb ... |
ORPHA:500180 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Posteriorly rotated ears, Low-set ears, Recurrent hand flapping |
OMIM:618147 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements, Dystonia, Oculomotor apraxia, Ataxia, Hypotonia, Generalized dystonia, Neon... |
OMIM:245348 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Dysdiadochoki... |
OMIM:617145 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Spasticity, Babinski sign, Chorea, Axial hypotonia, Cerebral palsy, Hypertonia, Choreoathetosis, ... |
OMIM:618451 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block |
ORPHA:1479 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Hypotonia, Abnormality of extrapyramidal motor function, Neonatal hypotonia, Intention tr... |
OMIM:302500 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Spasticity, Opisthotonus, Neonatal hypotonia |
OMIM:610678 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal movement disorder, Chorea, Resting tremor, Progressive extrapy... |
ORPHA:401768 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Parkinsonism, Involuntary movements, Choreoathetosis |
OMIM:616413 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Spasticity, Abnormal pyramidal sign, Hypotonia, Abnormality of extrapyramidal motor function, Pro... |
ORPHA:445038 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Anal atresia, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal repetitive ... |
OMIM:617695 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... |
ORPHA:314632 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Schimke X-Linked Mental Retardation Syndrome |
|
Spasticity, Choreoathetosis |
OMIM:312840 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Difficulty walking, Abnormal motor evoked potentials, Abnorm... |
ORPHA:320401 |
| Gitelman Syndrome |
|
Raynaud phenomenon, Abnormal T-wave, Tinnitus, Paresthesia, Syncope, Palpitations, Low-to-normal ... |
ORPHA:358 |
| Spinocerebellar Ataxia 18 |
|
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria |
OMIM:607458 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... |
OMIM:617284 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... |
OMIM:614954 |
| Spinocerebellar Ataxia Type 40 |
|
Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmetria, Broad-based gait, Sp... |
ORPHA:423275 |
| Autism, Susceptibility To, X-Linked 2 |
|
Abnormal repetitive mannerisms |
OMIM:300495 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Abnormal repetitive mannerisms, Anteverted ears, Hyperactivity, Macrotia |
OMIM:615541 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, H... |
ORPHA:1368 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Hyperkinetic movements, Ataxia, Hypotonia, Tremor, Neonatal hypotonia, Opisthotonus, ... |
OMIM:616271 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Hemiparesis, Ataxia |
OMIM:141500 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia |
ORPHA:210571 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Hyperkinetic movements, Bruxism, Hypotonia, Myoclonus, Stereotypical hand wringing, Choreoathetos... |
OMIM:618497 |
| Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, High palate, Attention deficit hyperactivity disorder, Cleft palate, Recurrent hand... |
OMIM:620021 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ileus, Short-segment aganglionic megacolon, Hypoplasia of the semicircular canal, Absent brainste... |
OMIM:609136 |
| Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Endocardial fibrosis, Mitral regurgitation, Left atrial e... |
ORPHA:75566 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Hypotonia, Myoclonus, Axial hypotonia, Spastic tetraparesis, Choreoathetosis |
OMIM:617065 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Intention tremor, Atrioventricular block, Macrotia, Bradycardia, Truncal ata... |
OMIM:614407 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Spasticity, Spastic tetraplegia, Neonatal hypotonia, Opisthotonus, Myoclonus, Hypertonia |
OMIM:615851 |
| Smith-Magenis Syndrome |
|
Head-banging, Abnormality of the thyroid gland, Hyperactivity, EEG abnormality, Hearing impairmen... |
OMIM:182290 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
| Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:614203 |
| Mepan Syndrome |
|
Spasticity, Limb dystonia, Ataxia, Axial dystonia, Hypotonia, Chorea, Hemidystonia, Myoclonus, Cr... |
ORPHA:508093 |
| Developmental And Epileptic Encephalopathy 31B |
|
Clonus, Hypotonia, Generalized hypotonia, Opisthotonus, Appendicular spasticity, Myoclonus, Invol... |
OMIM:620352 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Impaired distal vibration sensation, Tremor, Fasciculations,... |
ORPHA:276435 |
| Coffin-Siris Syndrome 6 |
|
Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Tics, Posteriorly rotated e... |
OMIM:617808 |
| Usher Syndrome Type 1 |
|
Subcortical cerebral atrophy, Ataxia, Vestibular hypofunction, Abnormal cochlea morphology, Senso... |
ORPHA:231169 |
| Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Opisthotonus, Frequent falls, Generalized dystonia |
ORPHA:216866 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... |
ORPHA:420485 |
| Xq28 (MECP2) duplication |
|
Gastroesophageal reflux, Constipation, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
DECIPHER:45 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Spasticity, Low-set ears, Inability to walk, Bruxism, Tremor, Abnormal repetitive mannerisms |
OMIM:618718 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Waddling gait, Inability to walk, Macrotia |
OMIM:616269 |
| Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... |
OMIM:611584 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Ataxia, Paraparesis, Hypotonia, Myoclonus, Choreoathetosis, S... |
ORPHA:726 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
| Urocanase Deficiency |
|
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria |
OMIM:276880 |
| Fragile X Syndrome |
|
Hyperactivity, Congenital macroorchidism, Abnormal head movements, Macrotia, Recurrent hand flapp... |
OMIM:300624 |
| Dystonia 24 |
|
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia |
OMIM:615034 |
| Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hypotonia, Chorea, Myoclonus, Abnormal repetitive mannerisms, Cerebral palsy, Recurrent hand flap... |
OMIM:617600 |
| Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Hepatomegaly, Abno... |
ORPHA:398124 |
| Pandas |
|
Clumsiness, Obsessive-compulsive trait, Tics, Chorea |
ORPHA:66624 |
| Stiff-Person Syndrome |
|
Frequent falls, Myoclonic spasms, Rigidity, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231183 |
| Adenylosuccinase Deficiency |
|
Spasticity, Hypotonia, Hemiplegia, Generalized hypotonia, Gait ataxia, Opisthotonus, Myoclonus |
OMIM:103050 |
| Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... |
OMIM:619897 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
| Huntington Disease-Like 3 |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Chorea... |
OMIM:604802 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Spastic tetraplegia, Hypotonia, Athetosis, Chorea, Dystonia |
OMIM:619922 |
| Chromosome Xq21 Deletion Syndrome |
|
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... |
OMIM:303110 |
| Canavan Disease |
|
Hypotonia, Abnormal pyramidal sign, Opisthotonus |
OMIM:271900 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Distal sensory impairment, Limb ataxia, Oculomotor apraxia, Ataxia, Impaired distal vibration sen... |
OMIM:208920 |
| Myoclonus, Intractable, Neonatal |
|
Hypotonia, Athetosis, Myoclonus, Chorea |
OMIM:617235 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hypotonia, Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, At... |
ORPHA:2041 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Action myoclonus, Myoclonus, Choreoathetosis, Truncal ataxia |
OMIM:616230 |
| Ocular Motor Apraxia |
|
Jerky head movements, Oculomotor apraxia |
OMIM:257550 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormality of the internal auditory canal, Conductive hearing impairment, Abnor... |
ORPHA:90646 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Abnormality of extrapyramidal motor function, Opisthotonus, Myoclonus, Axial hypotonia, Spastic t... |
OMIM:605711 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Blepharospasm, Cogwheel rigidity, Abnormality of extrapyramidal motor functi... |
OMIM:604290 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Posteriorly rotated ears, Low-set ears, Recurrent hand flapping, Impulsivity |
OMIM:619717 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
| Spinocerebellar Ataxia 12 |
|
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... |
OMIM:604326 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Oculomotor apraxia, Progressive cerebellar ataxia, Difficulty walking, Spastic dysarthria, Impair... |
ORPHA:95433 |
| Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Postural tremor, Impaired proprioception, Generalized hypotonia, D... |
ORPHA:98755 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... |
OMIM:608751 |
| Optic Atrophy 8 |
|
Mitral regurgitation, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opti... |
OMIM:616648 |
| Chiari Malformation Type Ii |
|
Hypotonia, Opisthotonus, Ataxia, Generalized hypotonia |
OMIM:207950 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Low-set ears, Hyperactivity, Protruding ear, Bruxism, Attention deficit hyperactivit... |
OMIM:618342 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Generalized hypotonia, Ataxia |
OMIM:619099 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Infantile muscular hypotonia, Progressive cerebellar ataxia, Lower limb spasticity, Chorea, Upper... |
ORPHA:485350 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Low-set ears, Ataxia |
OMIM:618951 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Atrial septal defect, Le... |
OMIM:612098 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Cryptorchidism, Hyperactivity, Attention deficit hyperactivity disorder, Repetitive... |
ORPHA:352490 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Ataxia, Hypotonia, Positive Romberg sign, Babinski sign, Choreoathetosis, Dystonia, D... |
OMIM:618088 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Spasticity, Generalized hypotonia, Dystonia, Chorea |
OMIM:613970 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Volvulus, Dysphagia, Interictal epileptiform activity, Abnormal repetitive manneris... |
OMIM:617802 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... |
OMIM:606324 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Babinski sign, Spasticity |
OMIM:612069 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Hyperactivity, High palate, Abnormal pinna morphology |
OMIM:300983 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor, Shuffl... |
ORPHA:306692 |
| Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Abnormal EKG, Low-set ears, Ataxia, Hepatomegaly, Abnormal heart morphology, ... |
ORPHA:93400 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Microtia |
OMIM:612138 |
| Alg11-Cdg |
|
Infantile muscular hypotonia, Ataxia, Limb hypertonia, Opisthotonus, Axial hypotonia, Hypertonia |
ORPHA:280071 |
| Huntington Disease |
|
Clonus, Clumsiness, Rigidity, Chorea, Bradykinesia, Compulsive behaviors, Myoclonus, Babinski sig... |
ORPHA:399 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Axial hypotonia, Choreoathetosis, Dystonia |
OMIM:612716 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia |
OMIM:605909 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Unsteady gait, Ataxia, Titubation, Tremor, Compulsive behaviors, Dysmetria |
OMIM:619405 |
| Lesch-Nyhan Syndrome |
|
Spasticity, Hypotonia, Abnormality of extrapyramidal motor function, Opisthotonus, Choreoathetosi... |
OMIM:300322 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Potocki-Lupski Syndrome |
|
High palate, Gastroesophageal reflux, Hyperactivity, EEG abnormality, Hearing impairment, Oral-ph... |
OMIM:610883 |
| Spinocerebellar Ataxia 47 |
|
Spasticity, Ataxia, Generalized hypotonia, Chorea, Dysmetria |
OMIM:617931 |
| Aminoacylase 1 Deficiency |
|
Cerebral atrophy, Hyperactivity, Sensorineural hearing impairment, Bradycardia, Cerebellar atroph... |
OMIM:609924 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Alcoholism, Syncope, I... |
ORPHA:90065 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Paraparesis, Hearing impairment, Tremor |
ORPHA:99014 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Infantile muscular hypotonia, Ataxia, Paraparesis, Hypotonia, Progressive extrapyramidal movement... |
OMIM:612736 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Distal sensory impairment, Steppage gait, Hearing impairment, Tremor, Babinski sign, ... |
OMIM:609260 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Spasticity, Choreoathetosis, Dystonia, Axial hypotonia |
OMIM:614249 |
| Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block,... |
ORPHA:85447 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Low-set ears, Pulmonary arterial hypertension, Attention deficit hyperactivity disorder, Optic ne... |
OMIM:620029 |
| Sneddon Syndrome |
|
Tremor, Hemiparesis, Chorea |
ORPHA:820 |
| Christianson Syndrome |
|
Abnormal repetitive mannerisms, Gastroesophageal reflux, Dysphagia, Macrotia |
ORPHA:85278 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Distal sensory impairment, Gait disturbance, Unsteady gait, Impaired distal vibration sensation, ... |
OMIM:601455 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... |
ORPHA:1329 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Hypotonia, Myoclonus, Ataxia |
OMIM:616366 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Sensorineura... |
OMIM:610185 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Ataxia, Rigidity, Bradykinesia, Fasciculations |
OMIM:183050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypotonia, Tetraplegia, Opisthotonus, Hypertonia |
OMIM:619272 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Spasticity, Oculomotor apraxia, Ataxia, Limb hypertonia, Clonus, Generalized dystonia, Intention ... |
OMIM:618076 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, Right atrial enlargement, He... |
OMIM:115197 |
| Dystonia 9 |
|
Abnormal pyramidal sign, Paresthesia, Spastic paraplegia, Episodic ataxia, Choreoathetosis, Dystonia |
OMIM:601042 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Chorea, T... |
ORPHA:282166 |
| Developmental And Epileptic Encephalopathy 64 |
|
Hemiparesis, Limb hypertonia, Bruxism, Paroxysmal dystonia, Hypotonia, Chorea, Abnormal repetitiv... |
OMIM:618004 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Spastic tetraparesis, Chorea, Hemiballismus |
OMIM:618567 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Hypotonia, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia... |
OMIM:618877 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Abnormal pyramidal sign, Distal sensory impairment, Spastic tetraplegia, Parkinsonism, Ataxia, Fa... |
OMIM:617225 |
| Gitelman Syndrome |
|
Ventricular tachycardia, Paresthesia, Hypotension, Ataxia, Palpitations, Salt craving, Vertigo, P... |
OMIM:263800 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
| Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... |
ORPHA:391411 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Tetraparesis, Frequent falls, Infantile muscular hypotonia, Ataxia, Cogwheel rigidity... |
ORPHA:225154 |
| Spinocerebellar Ataxia 1 |
|
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Progressive cerebellar ataxia, Hyp... |
OMIM:164400 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Rigidity, Bradykinesia, Pill-... |
OMIM:615528 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Myoclonus, Abnormal repetitive mannerisms, Babinski sign, Dystonia |
OMIM:600795 |
| Infantile Krabbe Disease |
|
Spasticity, Ankle clonus, Hyperesthesia, Spastic diplegia, Infantile axial hypotonia, Opisthotonu... |
ORPHA:206436 |
| Dystonia 7, Torsion |
|
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... |
OMIM:602124 |
| Gm2-Gangliosidosis, Ab Variant |
|
Abnormal pyramidal sign, Hypotonia, Generalized hypotonia, Chorea, Exaggerated startle response, ... |
OMIM:272750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Parkinsonism, Gait disturbance, Falls, Impaired tandem gait, Apraxia, Rigidity, Brady... |
OMIM:300423 |
| Neuroferritinopathy |
|
Parkinsonism, Leg dystonia, Blepharospasm, Focal dystonia, Chorea, Writer's cramp, Bradykinesia, ... |
ORPHA:157846 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... |
OMIM:125250</ |
