Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign |
ORPHA:85292 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... |
OMIM:614561 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Dystonia 27 |
|
Postural tremor, Action tremor |
OMIM:616411 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity |
ORPHA:401835 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Truncal ataxia, Tremor |
OMIM:616127 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:600116 |
Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:607317 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Tremor |
OMIM:617917 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism |
ORPHA:210571 |
Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
Dystonia 24 |
|
Torticollis, Head tremor, Blepharospasm |
OMIM:615034 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Intention tremor |
OMIM:616053 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm |
ORPHA:420485 |
Spinocerebellar Ataxia 12 |
|
Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins... |
OMIM:604326 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Tremor |
OMIM:224500 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:605909 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Action tremor |
ORPHA:464440 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal ataxia |
OMIM:130950 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
Corticobasal Syndrome |
|
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... |
ORPHA:454887 |
Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
OMIM:617013 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... |
ORPHA:240103 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Urocanic Aciduria |
|
Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... |
ORPHA:216873 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:616719 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
ORPHA:521406 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Myoclonus |
OMIM:608105 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia |
OMIM:619028 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:619279 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinsonism, Spast... |
OMIM:300894 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis |
OMIM:612126 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Blepharospasm, Torticollis, Tremor |
ORPHA:99657 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity |
OMIM:615010 |
Huntington Disease-Like 2 |
|
Chorea, Action tremor, Bradykinesia, Rigidity |
OMIM:606438 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia |
OMIM:618093 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetria, Tremor, Dysdiadochokines... |
OMIM:213600 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Rigidity, Tremor |
OMIM:618090 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Ataxia, Bradykinesia, Rigidity |
OMIM:617836 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism |
OMIM:261640 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Ataxia, Gait ataxia, Tremor |
OMIM:618387 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Resting tremor, Myoclonus, Limb hypertonia |
ORPHA:324588 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Spasticity |
OMIM:612716 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Abnormal pyramidal sign, Incoordination, Ataxia |
OMIM:614947 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... |
OMIM:617145 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ga... |
ORPHA:98773 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations |
OMIM:159950 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity |
ORPHA:33445 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor |
OMIM:616668 |
Leukodystrophy, Hypomyelinating, 6 |
|
Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia |
ORPHA:101075 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia, Truncal ... |
OMIM:618877 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Fasciculations, Tongue fasciculations |
ORPHA:276435 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordination, Aprax... |
OMIM:615157 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Blepharospasm, Tremor |
OMIM:607671 |
Spinocerebellar Ataxia 8 |
|
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign |
OMIM:608768 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Progressive cerebellar ataxia |
ORPHA:139485 |
Parkinson Disease 8, Autosomal Dominant |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607060 |
Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign |
OMIM:617435 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia |
OMIM:606703 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Ataxia, Titubation, Tremor |
OMIM:619405 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
Myopathy, Spheroid Body |
|
Tremor |
OMIM:182920 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Babinski sign, Rigidity, Choreoathetosis, Chorea, Bradykinesia, Tremor, Ataxia, Spasticity, Parki... |
OMIM:606159 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor by anatomical site, Rigidity, Bradykinesia, Extrapyramidal muscular rigidity... |
ORPHA:99750 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
ORPHA:240085 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Spasticity |
OMIM:300983 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine motor coord... |
ORPHA:79263 |
Hsd10 Disease |
|
Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis |
ORPHA:391417 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia |
ORPHA:101078 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Bradykinesia, Parkinsonism with favorable respons... |
ORPHA:53351 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Hypertonia, Spasticity |
OMIM:609260 |
Spinocerebellar Ataxia 42 |
|
Babinski sign, Spastic gait, Spastic ataxia, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:616795 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Parkinsonism, Bradykinesia, Hemiparesis |
ORPHA:306669 |
Dystonia 7, Torsion |
|
Clumsiness, Hand tremor, Blepharospasm, Torticollis |
OMIM:602124 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... |
OMIM:183090 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia |
OMIM:614831 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Gait ataxia |
ORPHA:1170 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Rigidity, Myoclonus, Bradykinesia, Resting tremor, Abnormal pyramidal sign... |
ORPHA:391411 |
Kufor-Rakeb Syndrome |
|
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Parkinsonism ... |
OMIM:606693 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic paraplegia |
OMIM:616586 |
Perry Syndrome |
|
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus |
ORPHA:2590 |
Atypical Rett Syndrome |
|
Involuntary movements, Limb myoclonus, Tongue thrusting, Tremor, Stereotypical hand wringing, Apr... |
ORPHA:3095 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements |
OMIM:233910 |
Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Ataxia, Hypertonia, Tremor |
OMIM:617106 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor |
ORPHA:79234 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor |
OMIM:610185 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Dysmetria, Tremor, Spasticity, Apraxia, Gait ataxia |
OMIM:617810 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Ataxia, Paraparesis |
ORPHA:99014 |
Gerstmann-Straussler Disease |
|
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... |
OMIM:137440 |
Dentatorubral Pallidoluysian Atrophy |
|
Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Myoclonus, Progressive cerebellar... |
ORPHA:101 |
Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
ORPHA:98764 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
Autosomal Dominant Cerebellar Ataxia |
|
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Choreoa... |
ORPHA:99 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Babinski sign, Choreoathetosis, Spastic gait, Bradykinesia, Spastic tetraplegia, Tremor, Ataxia, ... |
OMIM:300055 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Myoclonus, Blepharospasm |
OMIM:607876 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... |
ORPHA:282166 |
Hypermanganesemia With Dystonia 1 |
|
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Poor fine motor coo... |
OMIM:613280 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Incoordination |
OMIM:302800 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
Ataxia With Vitamin E Deficiency |
|
Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnormal pyramidal sign, Hemiplegia/he... |
ORPHA:96 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:208920 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor |
OMIM:615578 |
Peroxisome Biogenesis Disorder 5B |
|
Dysmetria, Oculomotor apraxia, Ataxia, Tremor |
OMIM:614867 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia |
ORPHA:477673 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Incoordination, Abnormal pyramidal sign |
OMIM:618060 |
4H Leukodystrophy |
|
Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Tremor, Ataxia,... |
ORPHA:289494 |
Parkinson Disease 20, Early-Onset |
|
Rigidity, Eyelid apraxia, Bradykinesia, Tremor, Parkinsonism |
OMIM:615530 |
Neuronal Intranuclear Inclusion Disease |
|
Tremor, Ataxia, Rigidity |
OMIM:603472 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... |
ORPHA:363400 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Tremor, Progressive cerebellar... |
ORPHA:137898 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Cogwheel rigidity, Bradykinesia |
OMIM:311510 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor |
ORPHA:70594 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia |
ORPHA:3124 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Spasticity, Stereotypy |
OMIM:618718 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Truncal... |
ORPHA:228360 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:616505 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Parkinsonism, Resting tremor, Lower limb spasticity |
ORPHA:3077 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia |
ORPHA:529665 |
Pelizaeus-Merzbacher Disease |
|
Head titubation, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia, Abnormal pyra... |
OMIM:312080 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
Sneddon Syndrome |
|
Tremor, Hemiplegia |
OMIM:182410 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Tremor, Parkinsonism, Gait ataxia, Incoordination |
OMIM:618049 |
Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Hypertonia, Blepharospasm, Tremor |
OMIM:128100 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Frequent falls, Lower limb spasticity, Tremor, Tetraplegia, Spastic diplegia, Slurred... |
ORPHA:206443 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination |
ORPHA:36387 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia |
ORPHA:29822 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Tremor, Abnormality of coordination, Hypertonia, Dysdiadochokinesis, Spastic tetraparesis, Ataxia... |
ORPHA:352649 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity |
OMIM:304700 |
Pyruvate Dehydrogenase Deficiency |
|
Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal pyramidal sign |
ORPHA:765 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Abnormality of coordination,... |
ORPHA:442835 |
Parkinson Disease, Late-Onset |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:168600 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia |
OMIM:618056 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medicati... |
ORPHA:240071 |
Nemaline Myopathy 5 |
|
Tremor |
OMIM:605355 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Babinski sign, Clonus, Head titubation, Dysmetria, Spastic gait, Intention tremor, Tremor, Ataxia... |
ORPHA:99027 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic tetraplegia, Spastic paraplegia |
OMIM:612164 |
Classic Phenylketonuria |
|
Paraplegia, Tremor, Hypertonia, Hemiplegia |
ORPHA:79254 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity |
OMIM:105210 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia |
ORPHA:83629 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Fasciculations, Vocal cord paresis |
OMIM:619574 |
Aceruloplasminemia |
|
Involuntary movements, Rigidity, Torticollis, Chorea, Tremor, Ataxia, Parkinsonism, Limb ataxia, ... |
ORPHA:48818 |
Tetanus |
|
Opisthotonus, Rigidity, Spasticity of pharyngeal muscles, Tremor, Hypertonia |
ORPHA:3299 |
Adult-Onset Dystonia-Parkinsonism |
|
Clumsiness, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myoclonus, Br... |
ORPHA:199351 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chorea, Progressive gait ataxia, Tremor, Oculomotor apraxia, Head tremor, Abnormal pyramidal sign... |
OMIM:606002 |
Perry Syndrome |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168605 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Hypertonia, Tremor |
ORPHA:1578 |
Multiple System Atrophy 1, Susceptibility To |
|
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism |
OMIM:146500 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Tremor, Ataxia, Tetraparesis |
OMIM:617186 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Parkinso... |
OMIM:614298 |
Progressive Supranuclear Palsy |
|
Tremor, Blepharospasm, Bradykinesia, Rigidity |
ORPHA:683 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Tay-Sachs Disease |
|
Clumsiness, Progressive spasticity, Frequent falls, Dysmetria, Myoclonus, Exaggerated startle res... |
ORPHA:845 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality of extrapyramidal motor func... |
OMIM:234200 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Babinski sign, Spastic gait, Spastic dysarthria, Tremor, Abnormal pyramidal sign, Lower limb hype... |
ORPHA:447753 |
Serotonin Syndrome |
|
Clonus, Rigidity, Myoclonus, Tremor, Hypertonia |
ORPHA:43116 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Poor motor coordination, Rigidity, Chorea, Tremor, Ataxia |
ORPHA:25 |
Alternating Hemiplegia Of Childhood |
|
Rigidity, Choreoathetosis, Paroxysmal dyskinesia, Chorea, Tremor, Oculomotor apraxia, Ataxia, Tet... |
ORPHA:2131 |
Supranuclear Palsy, Progressive, 1 |
|
Rigidity, Eyelid apraxia, Bradykinesia, Retrocollis, Tremor, Parkinsonism |
OMIM:601104 |