Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Abnormal pyramidal sign, Postural tremor, Dementia, Progressive cerebellar ataxia, Memory impairment |
ORPHA:85292 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, ... |
ORPHA:401901 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Panic attack, Agoraphobia |
OMIM:159900 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor |
OMIM:611105 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor... |
ORPHA:79262 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Huntington Disease-Like 2 |
|
Chorea, Inertia, Anxiety, Rigidity, Apathy, Dementia, Dystonia, Action tremor, Subcortical dement... |
OMIM:606438 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dystonia, Fascicu... |
ORPHA:309169 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Memory impairment, Spastic gait, Postural tremor |
ORPHA:401849 |
Brunner Syndrome |
|
Low frustration tolerance, Aggressive behavior, Self-injurious behavior, Kinetic tremor |
OMIM:300615 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia, Mental deterioration |
OMIM:616187 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Dementia, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit... |
ORPHA:216873 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia... |
ORPHA:101109 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Self-biting |
OMIM:619988 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor... |
OMIM:604326 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Dementia, T... |
ORPHA:454887 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Cognitive impairment, Tremor by anatomical... |
ORPHA:98762 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cognitive impairment, Truncal ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:615768 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Emotional lability, Tremor, Anxiety, Dystonia, Bradykinesia |
OMIM:128235 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Aggressive behavior, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lo... |
ORPHA:98811 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ... |
ORPHA:314632 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Hemiplegia, Tremor, Anxiety |
OMIM:141500 |
Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Irritabilit... |
OMIM:261630 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Babinsk... |
OMIM:615362 |
Urocanase Deficiency |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:276880 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia |
OMIM:614860 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Mental deterioratio... |
OMIM:615924 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Dystonia, Me... |
OMIM:213600 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Anxiety, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Mental dete... |
OMIM:618093 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebell... |
ORPHA:98763 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Anxiety, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication, Tremo... |
ORPHA:240085 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Cognitive impairment, Torticollis, Myoclonus, Tremor, Craniofacial dysto... |
OMIM:617284 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio... |
ORPHA:71517 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
Parkinson-Dementia Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Dementia, Tremor |
OMIM:260540 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia |
ORPHA:210571 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Dystonia, Anxiety |
OMIM:619651 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... |
ORPHA:420485 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Rigidity, Dementia, Tremor, Progressive neurologic deterioration, Hypertonia |
OMIM:176500 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigidity, Limb apraxia, Apraxia, ... |
ORPHA:240103 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti... |
OMIM:606159 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Limb hypertonia, Parkinsonism, Rigidit... |
OMIM:615528 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi... |
OMIM:617145 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Memory impairment |
OMIM:620158 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... |
ORPHA:251282 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Cognitive impairment, Postural tremor, Parkinsonism, Limb d... |
OMIM:612067 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Aggressive behavior, Self-mutilation, Emotional lability |
OMIM:616269 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Aggressive behavior, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox... |
OMIM:606703 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Anxiet... |
OMIM:619279 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh... |
OMIM:607346 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Apathy, Bradykinesia |
ORPHA:306692 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... |
ORPHA:521406 |
Perry Syndrome |
|
Parkinsonism, Abnormality of extrapyramidal motor function, Apathy, Dementia, Tremor |
ORPHA:178509 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Parkinsonism, Rigidity, Dementia, Spastic paraparesis, Tremor, Dystonia, Bra... |
ORPHA:329284 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Spastic tetraplegia, Resting tremor, P... |
OMIM:617225 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Aggressive behavior, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Anxiety, Hy... |
OMIM:619738 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Aggressive behavior, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, My... |
OMIM:137440 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hyperki... |
OMIM:233910 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Cognitive impairment, Rigidity, Abnormality of extrapyramidal motor function, Tremor... |
ORPHA:98773 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Diminished motivation, Aggressive behavior, Cognitive impairment, Gait apraxia, Dysd... |
OMIM:615157 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Cognitive impairment, Motor deterioration, Clum... |
ORPHA:79263 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Tremor, Memory impairment, Ataxia |
OMIM:614018 |
Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Irritability, Dystonia |
OMIM:612126 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Dementia, Tremor |
OMIM:607876 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Progressive neurologic ... |
OMIM:261640 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Parkinson Disease 14, Autosomal Recessive |
|
Frontotemporal dementia, Aggressive behavior, Spasticity, Ankle clonus, Resting tremor, Parkinson... |
OMIM:612953 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Cognitive impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, ... |
ORPHA:101 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
Sneddon Syndrome |
|
Chorea, Hemiparesis, Dementia, Tremor, Mental deterioration, Memory impairment |
ORPHA:820 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dystonia |
ORPHA:324588 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Aggressive behavior, Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal... |
OMIM:612736 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... |
ORPHA:99750 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Aggressive behavior, Cognitive impairment, Postural tremor, Parkinsonism, Abnormalit... |
OMIM:607454 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Emotional lability, Ataxia, Tremor, Me... |
ORPHA:542310 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor |
OMIM:613608 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Limb ataxia, Hand tremor, Tremor, Memory impair... |
ORPHA:98764 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Bradykinesia, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myocl... |
ORPHA:282166 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Anxiety, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Panic attack... |
OMIM:619725 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Anxiety, Parkinsonism, Rigidity, Dementia, Spastic paraparesis, Tremor, Ment... |
OMIM:300894 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
Kufor-Rakeb Syndrome |
|
Spasticity, Aggressive behavior, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism w... |
OMIM:606693 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Cognitive impairment, Oculomotor apraxia, Poor motor coordination, Ataxi... |
ORPHA:1170 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... |
ORPHA:53351 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Resting tremor, Abnormal aggressive,... |
ORPHA:3077 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment |
ORPHA:79234 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cognitive impairment, Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dysto... |
ORPHA:70594 |
Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Cognitive impairment, Spastic ataxia, Spastic gait, Ataxia, Babinski sig... |
OMIM:616795 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Aggressive behavior, Ataxia, Tremor |
OMIM:300983 |
Dopa-Responsive Dystonia |
|
Generalized dystonia, Anxiety, Parkinsonism, Rigidity, Poor coordination, Oculogyric crisis, Abno... |
ORPHA:255 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial... |
ORPHA:420492 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, Limb dystonia, Demen... |
OMIM:616840 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Babinski sign, Tremor, Hypertonia, Mental deterioration |
OMIM:609260 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Aggressive behavior |
OMIM:619470 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Urocanic Aciduria |
|
Gait ataxia, Action tremor, Truncal ataxia, Ataxia |
ORPHA:210128 |
Neuroferritinopathy |
|
Chorea, Blepharospasm, Cognitive impairment, Resting tremor, Frontal lobe dementia, Writer's cram... |
ORPHA:157846 |
Saccharopinuria |
|
Gait ataxia, Cognitive impairment, Spastic diplegia, Tremor, Mental deterioration |
ORPHA:3124 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:311510 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Cognitive impairment, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Demen... |
OMIM:208920 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Gait ataxia, Dysdiadochokinesis, Postural tremor, Resting tremor, P... |
OMIM:300623 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Dementia, Tremor, Frequent falls, Tongue fasciculations |
OMIM:159950 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia |
OMIM:615010 |
Neuronal Intranuclear Inclusion Disease |
|
Cognitive impairment, Rigidity, Ataxia, Dementia, Tremor |
OMIM:603472 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Classic Phenylketonuria |
|
Self-injurious behavior, Motor deterioration, Hemiplegia, Paraplegia, Tremor, Hypertonia, Mental ... |
ORPHA:79254 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia |
OMIM:618049 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:306669 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... |
ORPHA:96 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Generalized dystonia, Parkinsonism, Limb dystonia, Clumsiness, Babinski... |
OMIM:617013 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Cognitive impairment, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia,... |
ORPHA:352649 |
Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor |
OMIM:213200 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Eyelid myoclonus, Clumsiness, Myoclonus, Tremor, Frequent falls, Mental deteriora... |
ORPHA:2590 |
Multiple System Atrophy, Parkinsonian Type |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkinsonism, Rigidity, Ap... |
ORPHA:98933 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Tremor, Lower limb spasticity, Dystonia |
OMIM:617916 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... |
OMIM:618877 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Rigidity, Paraparesis, Babinski sign, Truncal titub... |
OMIM:607483 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apraxia, Rigidity, Myoc... |
OMIM:183090 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Cognitive impairment, Writer's cramp, Choreoathetosis, Apathy, Psychomot... |
OMIM:312080 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Social and occupational deterioration, Abnormal pyramidal sign, Parkinsonism, Park... |
ORPHA:240071 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Limb dystonia, Myoclonus,... |
ORPHA:363400 |
Trisomy X |
|
Tremor, Cognitive impairment, Anxiety |
ORPHA:3375 |
4H Leukodystrophy |
|
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Upper ... |
ORPHA:289494 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Dystonia, Mental deterioration |
OMIM:304700 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Cognitive impairment, Incoordination, Ataxia, Tremor, Anxiety, Brad... |
ORPHA:36387 |
Cln5 Disease |
|
Spasticity, Aggressive behavior, Anxiety, Dysdiadochokinesis, Truncal ataxia, Clumsiness, Ataxia,... |
ORPHA:228360 |
Perry Syndrome |
|
Frontotemporal dementia, Suicidal ideation, Parkinsonism, Rigidity, Apathy, Tremor, Anxiety, Dyst... |
OMIM:168605 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetosis, Emotio... |
OMIM:300055 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tetraplegia, Spastic diplegia, Clumsiness, Upper motor neuron dysfunction, Emotional lability, He... |
ORPHA:206443 |
Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor |
OMIM:614307 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls |
OMIM:616719 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Dystonia, Bradykinesia |
OMIM:617435 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Dementia, Tremor, Dystonia, Bradykinesia |
OMIM:168600 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia |
OMIM:617106 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Dysmetria, Tremor, Ataxia |
OMIM:619405 |
Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Involuntary movements, Apraxia, Tremor, Hand apraxia, Pa... |
ORPHA:3095 |
Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Abnormal pyramidal sign, Apraxia, Dementia, Babinski sign, Focal dystonia, Tremor, ... |
ORPHA:52368 |
Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Eyelid apraxia, Involuntary movements, Tremor, Mental deterioration, Dyst... |
OMIM:615530 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Resting tremor, Parkinsonism, Rigidity, Dementia, Ba... |
ORPHA:247234 |
Caribbean Parkinsonism |
|
Frontal lobe dementia, Parkinsonism, Rigidity, Myoclonus, Apraxia, Progressive gait ataxia, Demen... |
ORPHA:97355 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
Young-Onset Parkinson Disease |
|
Spasticity, Cognitive impairment, Frontal lobe dementia, Rigidity, Apathy, Dementia, Tremor, Anxi... |
ORPHA:2828 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... |
OMIM:128100 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Cognitive impairment, Rigidity, Dementia, Tremor, Dystonia, Memory impairment, Bra... |
ORPHA:683 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Spastic ataxia, Progressive spasticity, Truncal ataxia, Clumsiness,... |
ORPHA:137898 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
OMIM:613280 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Frontotemporal dementia, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favo... |
ORPHA:199351 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Dementia, Tremor, Bradykinesia |
ORPHA:240094 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia, Irritability |
ORPHA:1578 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Cognitive impairment, Parkinsonism, Rigidity, Torticollis, Ap... |
ORPHA:48818 |
Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls |
OMIM:210000 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:607694 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Myoclonus, Dementia, Mental deterioration, Dystonia, Brad... |
OMIM:168601 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Aggressive behavior, Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Tremor, Hypertonia,... |
OMIM:617710 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Dementia, Tremor, Frequent falls, Progressive neurologic deterioration, Anxiety, Fa... |
ORPHA:329478 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor |
OMIM:618060 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... |
OMIM:614381 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Spastic gait, Dysdiadocho... |
ORPHA:99027 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Spasticity, Hemiparesis, Ataxia, Dementia, Paraplegia, Tremor |
OMIM:105210 |
Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Cognitive impairment, Rigidity, Limb dystonia, Poor motor coordination, Dementia, Ataxia,... |
ORPHA:25 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia |
OMIM:616586 |
Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Frontolimbic dementia, Parkinsonism, Rigidity, Limb dystonia, Eyelid apraxia, Apathy... |
OMIM:601104 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Dementia, Babinski sign, Tremor, Memor... |
ORPHA:447753 |
Serotonin Syndrome |
|
Anxiety, Rigidity, Myoclonus, Tremor, Hypertonia, Clonus, Mental deterioration, Irritability |
ORPHA:43116 |
Multiple System Atrophy 1, Susceptibility To |
|
Cognitive impairment, Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Bradykinesia |
OMIM:146500 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Progressive spasticity,... |
ORPHA:845 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Memory impairment, Ataxia, Mental deterioration |
ORPHA:79095 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
Niemann-Pick Disease Type C |
|
Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Axial dystonia, Frequent falls, Aggress... |
ORPHA:646 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor |
OMIM:618527 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid apraxia, Abnor... |
OMIM:234200 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... |
OMIM:606002 |
Metachromatic Leukodystrophy |
|
Progressive spasticity, Incoordination, Emotional lability, Ataxia, Dementia, Tremor, Frequent fa... |
ORPHA:512 |
Familial Congenital Mirror Movements |
|
Poor fine motor coordination, Clumsiness, Cerebral palsy |
ORPHA:238722 |
Mirror Movements 3 |
|
|
OMIM:616059 |