| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| 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 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia |
OMIM:611031 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor |
OMIM:300905 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign |
ORPHA:85292 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Ataxia, Tremor, Frequent falls |
OMIM:615945 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Episodic Ataxia, Type 8 |
|
Ataxia, Slurred speech, Intention tremor, Episodic ataxia |
OMIM:616055 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br... |
OMIM:260300 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
ORPHA:94122 |
| Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... |
OMIM:607671 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Laryngeal dystonia, In... |
ORPHA:101110 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Babinski sign, Tremor |
OMIM:300660 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Corticobasal Syndrome |
|
Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
| Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Head tremor, Blepharospasm |
OMIM:615034 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fasciculations, Tremor... |
OMIM:611302 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Limb dy... |
ORPHA:98762 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia |
OMIM:615768 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... |
ORPHA:420485 |
| Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
| Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
| Spinocerebellar Ataxia 35 |
|
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking |
OMIM:613908 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Progressive spastic paraplegia, ... |
ORPHA:401820 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ability to walk, Dystonia, Rigidity, Tremor |
OMIM:615010 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... |
OMIM:270500 |
| Dystonia 7, Torsion |
|
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... |
OMIM:602124 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
| Spinocerebellar Ataxia Type 28 |
|
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Dystonia, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia,... |
ORPHA:251282 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Gait disturbance, Parkinsonism, Rigidity, Frequent falls, Chorea, Oromandibular dysto... |
ORPHA:216873 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... |
ORPHA:284332 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Behr Syndrome |
|
Progressive spasticity, Gait disturbance, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Ataxia, Hemiparesis, Hemiplegia |
OMIM:141500 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... |
OMIM:604326 |
| Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... |
ORPHA:391411 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... |
OMIM:300423 |
| Dystonia 16 |
|
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... |
OMIM:612067 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking |
ORPHA:324588 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia |
ORPHA:210128 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia |
OMIM:261630 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Dystonia, Ataxia, Choreoathetosis |
OMIM:612126 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
| Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Focal dystonia, Br... |
ORPHA:240103 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Athetosis, Dystonia, Gait disturbance, Parkinsonism, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... |
OMIM:300894 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Focal dystonia, Extrapyra... |
ORPHA:99750 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia |
OMIM:619028 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal p... |
OMIM:617145 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ataxia, Limb... |
ORPHA:71517 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
| Myopathy, Spheroid Body |
|
Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
| Spinocerebellar Ataxia Type 21 |
|
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ak... |
ORPHA:98773 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:619279 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism |
OMIM:261640 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Diffic... |
ORPHA:98764 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia |
OMIM:618093 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Progressive cereb... |
ORPHA:284324 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Babinski sign, Rigidity, Writer's cramp, Choreoathetosis, Chorea, Bradykinesia, Larynge... |
OMIM:606159 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Steppage gait, Tremor, Ataxia, Gait ataxia |
OMIM:618387 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations |
ORPHA:276435 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:101075 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... |
OMIM:617435 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:616719 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Resting tremor, Limb hypertonia, Chorea |
OMIM:606703 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy |
OMIM:233910 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Inability ... |
OMIM:618877 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:101078 |
| Kufor-Rakeb Syndrome |
|
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... |
OMIM:606693 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Clumsiness, Babinski sign, Ataxia, Limb ataxia, Gait ataxia |
OMIM:609270 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
| Parkinson Disease 20, Early-Onset |
|
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism |
OMIM:615530 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Writer's cramp, Torticollis, Head tremor, Myoclonus, Limb tremor, Focal dystonia,... |
ORPHA:420492 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign |
ORPHA:139485 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia, Spasticity |
OMIM:300983 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
| Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... |
ORPHA:97355 |
| Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... |
ORPHA:276198 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking |
OMIM:159950 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
| Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Waddling gait |
OMIM:617557 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... |
OMIM:615157 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
| Atypical Rett Syndrome |
|
Involuntary movements, Dystonia, Gait disturbance, Limb myoclonus, Tongue thrusting, Loss of abil... |
ORPHA:3095 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Ataxia, Re... |
ORPHA:401768 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dystonia, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ataxia |
OMIM:618049 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine m... |
ORPHA:79263 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis |
ORPHA:101077 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Gait disturbance, Babinski sign, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... |
OMIM:616586 |
| Parkinson Disease 8, Autosomal Dominant |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607060 |
| Spinocerebellar Ataxia 42 |
|
Babinski sign, Spastic gait, Spastic ataxia, Tremor, Ataxia, Unsteady gait, Abnormal pyramidal sign |
OMIM:616795 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Gait disturbance, Shuffling gait, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnor... |
ORPHA:352649 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... |
OMIM:613280 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Gait disturbance, Ataxia, Paraparesis |
ORPHA:99014 |
| Dopa-Responsive Dystonia |
|
Dystonia, Gait disturbance, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... |
ORPHA:255 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Babinski sign, Steppage gait, Tremor, Hypertonia, Spasticity |
OMIM:609260 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
| Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity |
ORPHA:33445 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Athetosis, Dystonia, Dystonic gait, Abnormality of extrapyramidal motor function, Spastic tetrapa... |
ORPHA:280219 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... |
OMIM:614831 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-based gait, P... |
ORPHA:3077 |
| Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis |
ORPHA:391417 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Tremor, Hypertonia, Torsion dystonia, Blepharospasm |
OMIM:128100 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... |
ORPHA:240071 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Spinocerebellar Ataxia 8 |
|
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign |
OMIM:608768 |
| Waisman Syndrome |
|
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:311510 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Gait disturbance, Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Inc... |
OMIM:302800 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor, Oculogyric crisis |
ORPHA:70594 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... |
OMIM:607483 |
| Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnormal p... |
ORPHA:96 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Dysmetria, Tremor, Inability to walk, Apraxia, Spasticity, Gait ataxia |
OMIM:617810 |
| Autosomal Dominant Cerebellar Ataxia |
|
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Gait di... |
ORPHA:99 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity |
OMIM:618718 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking |
ORPHA:330050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... |
OMIM:300055 |
| Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:102 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Resting tremor, Spasticity, Akinesia, Abnormal pyramidal sign, Limb dystonia |
OMIM:616840 |
| Dentatorubral Pallidoluysian Atrophy |
|
Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandibular dystonia, Myoclonus... |
ORPHA:101 |
| Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Hyperactivity, Inability to walk, D... |
ORPHA:228360 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Progressive cerebe... |
OMIM:183090 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Dysmetria, Tremor, Ataxia, Oculomotor apraxia, Spasticity, Gait ataxia |
ORPHA:1170 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor |
OMIM:616668 |
| Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Ataxia, Hypertonia, Tremor |
OMIM:617106 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Limb fasciculations |
ORPHA:90117 |
| Peroxisome Biogenesis Disorder 5B |
|
Dysmetria, Tremor, Ataxia, Oculomotor apraxia, Unsteady gait |
OMIM:614867 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spasticity, Tremor, ... |
ORPHA:206443 |
| Gerstmann-Straussler Disease |
|
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... |
OMIM:137440 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor |
OMIM:610185 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Babinski sign, Oromandibular dystonia, Shuffling gait, Focal dystonia, Tremor, Inabilit... |
ORPHA:52368 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abno... |
ORPHA:363400 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Loss of ambulation, Spastic ataxia, Tremor, Pr... |
ORPHA:137898 |
| Primary Progressive Freezing Gait |
|
Postural tremor, Babinski sign, Clonus, Gait imbalance, Rigidity, Frequent falls, Shuffling gait,... |
ORPHA:75567 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Gait disturbance, Ataxia, Rigidity |
OMIM:603472 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Oculomotor apraxia, Truncal ataxia, Limb ataxia, Gait ... |
OMIM:208920 |
| Parkinson Disease, Late-Onset |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait, Parkinsonism |
OMIM:168600 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resting tremor,... |
OMIM:300623 |
| Neuroferritinopathy |
|
Involuntary movements, Dystonia, Arm dystonia, Leg dystonia, Babinski sign, Writer's cramp, Chore... |
ORPHA:157846 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Myoclonus, Blepharospasm |
OMIM:607876 |
| Pyruvate Dehydrogenase Deficiency |
|
Dystonia, Gait disturbance, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal... |
ORPHA:765 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:227510 |
| 4H Leukodystrophy |
|
Dystonia, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Tremo... |
ORPHA:289494 |
| Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:98933 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Babinski sign, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysdiadochokin... |
ORPHA:247234 |
| Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder |
ORPHA:3375 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor |
OMIM:615578 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Tremor, Ataxia, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:619556 |
| Parkinson Disease 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremor, Pa... |
OMIM:168601 |
| Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... |
ORPHA:282166 |
| Jaberi-Elahi Syndrome |
|
Dystonia, Choreoathetosis, Dysmetria, Tremor, Inability to walk, Spasticity, Gait ataxia |
OMIM:617988 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Head titubation, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia, Abn... |
OMIM:312080 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor |
ORPHA:79234 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:29822 |
| Perry Syndrome |
|
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia, Difficulty walking |
ORPHA:529665 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Dystonia, Spasticity |
OMIM:304700 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Ataxia, Abnormality of coord... |
ORPHA:442835 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Hypertonia |
OMIM:617248 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Dystonia, Gait disturbance, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemiplegia, Park... |
ORPHA:225147 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Abnormal pyramidal sign |
OMIM:618060 |
| Perry Syndrome |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Parkinsonism |
OMIM:168605 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Dysmetria, Steppage gait, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia,... |
OMIM:616505 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Tremor, Dystonia, Ataxia, Choreoathetosis |
OMIM:619422 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping |
ORPHA:544254 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Gait disturbance, Babinski sign, Tremor, Tip-toe gait, Spastic paraplegia |
ORPHA:83629 |
| Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia |
ORPHA:3124 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination |
ORPHA:36387 |
| Myopathy With Extrapyramidal Signs |
|
Clumsiness, Dystonia, Clonus, Choreoathetosis, Frequent falls, Chorea, Abnormality of extrapyrami... |
OMIM:615673 |
| Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
| Progressive Supranuclear Palsy |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm |
ORPHA:683 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy |
ORPHA:276608 |
| Classic Phenylketonuria |
|
Paraplegia, Tremor, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder |
ORPHA:79254 |
| Adult-Onset Dystonia-Parkinsonism |
|
Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myo... |
ORPHA:199351 |
| Aceruloplasminemia |
|
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Tremor, Ataxia, Craniofacial dyst... |
ORPHA:48818 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Gait disturbance, Frequent falls, Steppage gait, Choreoathetosis, Tremor, Difficulty walking |
ORPHA:206594 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Gait disturbance, Hypertonia |
ORPHA:1192 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal ... |
OMIM:614298 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia |
OMIM:278760 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Ataxia, Lethargy |
OMIM:201100 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Rigidity, Eyelid apraxia, Choreoathetosis, Abnormality ... |
OMIM:234200 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Stereotypy, Tremor, Hyperkinetic movements |
ORPHA:457240 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Tremor, Hypertonia, Parkinsonism, Oculogyric crisis |
ORPHA:1578 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Fasciculations, Vocal cord paresis, Tremor, Impaired tandem gait, Polyminimyoclonus |
OMIM:619574 |
| Sneddon Syndrome |
|
Tremor, Hemiplegia |
OMIM:182410 |
| Typhoid |
|
Tremor, Ataxia, Hypertonia, Lethargy |
ORPHA:99745 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia |
OMIM:618056 |
| Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait disturbance, Clonus, Babinski sign, Head titubation, Dysmetria, Spastic gait, Intention trem... |
ORPHA:99027 |
| Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retrocollis, Tremo... |
OMIM:601104 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... |
ORPHA:1942 |
| Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Broad-based gait, Rec... |
ORPHA:98794 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Gait disturbance, Hyperkinetic movements, Spasticity |
OMIM:300957 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity |
OMIM:105210 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Chorea, Progressive gait ataxia, Tremor, Oculomotor apraxia, Head tremor, Abnormal pyra... |
OMIM:606002 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Frequent falls, Fasciculations, Tremor, Parkinsonism, Difficulty walking |
ORPHA:329478 |
| Tay-Sachs Disease |
|
Clumsiness, Gait disturbance, Dystonia, Progressive spasticity, Frequent falls, Dysmetria, Myoclo... |
ORPHA:845 |
| Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic tetraplegia, Spastic paraplegia |
OMIM:612164 |
| Nemaline Myopathy 5 |
|
Tremor |
OMIM:605355 |
| Myopathy, Mitochondrial, And Ataxia |
|
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Truncal ataxia, Limb ataxia, Di... |
OMIM:617675 |
| Multiple System Atrophy 1, Susceptibility To |
|
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism |
OMIM:146500 |
| Young-Onset Parkinson Disease |
|
Dystonia, Gait imbalance, Rigidity, Bradykinesia, Tremor, Spasticity |
ORPHA:2828 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Dystonia, Rigidity, Poor motor coordination, Chorea, Tremor, Ataxia, Limb dystonia |
ORPHA:25 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Athetosis, Dystonia, Chorea, Speech apraxia, Tremor, Ataxia, Inability to walk, Waddling gait, Hy... |
OMIM:615356 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Babinski sign, Spastic gait, Falls, Spastic dysarthria, Tremor, Abnormal pyramidal sign, Lower li... |
ORPHA:447753 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Tremor, Ataxia, Tetraparesis |
OMIM:617186 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
| Tetanus |
|
Opisthotonus, Rigidity, Spasticity of pharyngeal muscles, Tremor, Hypertonia |
ORPHA:3299 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| Hyperlysinemia |
|
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Tremor, Hyperactivity, Neck hyperto... |
ORPHA:2203 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
| Triosephosphate Isomerase Deficiency |
|
Unsteady gait, Dystonia, Spasticity, Tremor |
OMIM:615512 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Limb hypertonia, Dysmetria, Spastic tetraplegia, Tremor, Ataxia, Difficulty walking, L... |
ORPHA:572798 |
| Metachromatic Leukodystrophy |
|
Progressive spasticity, Dystonia, Gait disturbance, Frequent falls, Tremor, Ataxia, Decerebrate r... |
ORPHA:512 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Rigidity, Choreoathetosis, Paroxysmal dyskinesia, Chorea, Tremor, Ataxia, Oculomotor ap... |
ORPHA:2131 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Vocal cord paralysis, Tremor, Inability to walk, Poor fine motor coordination, Tip-toe gait, Diff... |
ORPHA:99956 |
| Serotonin Syndrome |
|
Clonus, Rigidity, Myoclonus, Tremor, Hypertonia |
ORPHA:43116 |
| Niemann-Pick Disease Type C |
|
Clumsiness, Dystonia, Gait disturbance, Axial dystonia, Cataplexy, Frequent falls, Chorea, Myoclo... |
ORPHA:646 |
| Mercury Poisoning |
|
Tremor, Dystonia |
ORPHA:330021 |
| Encephalitis Lethargica |
|
Tremor, Parkinsonism, Lethargy |
ORPHA:83600 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, A... |
OMIM:612199 |
| Ataxia-Telangiectasia |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Ataxia |
OMIM:208900 |
| Early Infantile Epileptic Encephalopathy |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hyperactivity, Spasticity, Episodic ataxia |
ORPHA:1934 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
