| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| 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 |
| 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 |
| Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dyston... |
OMIM:619565 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
| 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 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Flexion contracture, Ataxia, Babinski sign, Tremor |
OMIM:611105 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| 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 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
| Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia |
OMIM:614860 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Multiple joint contractures, Writer's cramp, Torticollis, Babi... |
OMIM:128100 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Multiple joint contractures, Parkinsonism, Babinski sign, Scissor gait,... |
ORPHA:521406 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia |
ORPHA:210571 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... |
ORPHA:420485 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Dystonia, Abnormal posturing |
OMIM:304700 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... |
ORPHA:454887 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:615768 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... |
ORPHA:216873 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Tremor, Hemiplegia |
OMIM:141500 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia |
OMIM:615924 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... |
OMIM:604326 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... |
OMIM:617284 |
| Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... |
OMIM:213600 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
| Huntington Disease-Like 1 |
|
Poor fine motor coordination, Gait ataxia, Chorea, Abnormal posturing, Clumsiness, Incoordination... |
ORPHA:157941 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia |
OMIM:605909 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Hemiplegia, Ba... |
ORPHA:225147 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... |
ORPHA:251282 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... |
ORPHA:240103 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Upper motor neuron dysfunction, Increased intramuscular fat, Tremor, Tongue fasciculations, Fasci... |
ORPHA:276435 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia |
OMIM:128235 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Dystonia |
OMIM:619651 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor |
OMIM:620158 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor |
OMIM:615362 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
| Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:618093 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Emotional lability |
OMIM:617028 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
| Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dystonia |
ORPHA:324588 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor |
OMIM:613608 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... |
OMIM:617145 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... |
ORPHA:53351 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
| Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... |
OMIM:618877 |
| Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Dysmetria, Tremor, Ataxia |
OMIM:619405 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Reduced intraabdominal adipose tissue, Reduced ... |
ORPHA:363400 |
| Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia |
OMIM:618049 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor |
OMIM:213200 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:306669 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Abnormal posturing, Frequent falls, Opisthotonus, Generalized dystonia |
ORPHA:216866 |
| Developmental And Epileptic Encephalopathy 42 |
|
Flexion contracture, Ataxia, Tremor, Hypertonia, Athetosis |
OMIM:617106 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia |
OMIM:619738 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Tremor, Lower limb spasticity, Dystonia |
OMIM:617916 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:329284 |
| Behr Syndrome |
|
Adductor longus contractures, Progressive spasticity, Truncal ataxia, Achilles tendon contracture... |
OMIM:210000 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... |
OMIM:261640 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad... |
ORPHA:240085 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Achilles tendon contracture, Clumsiness, B... |
OMIM:617013 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Choreoathetosis, Dystonia, Ataxia |
OMIM:612126 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... |
OMIM:606693 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Rigidity, Paraparesis, Babinski sign, Truncal titub... |
OMIM:607483 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia |
OMIM:233910 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia |
ORPHA:70594 |
| Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Abnormal posturing |
ORPHA:71272 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... |
ORPHA:99750 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor |
OMIM:614307 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Wrist flexion contracture, Flexion contracture, Spastic tetraplegia, Spastic gait, Resting tremor... |
OMIM:300055 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... |
ORPHA:98773 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls |
OMIM:616719 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor |
OMIM:616795 |
| Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor |
ORPHA:1170 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... |
ORPHA:352649 |
| Amish Nemaline Myopathy |
|
Tremor, Hip contracture, Shoulder flexion contracture |
ORPHA:98902 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Achilles tendon contracture, Hand tremor, Incoordination, Babinski sign, Dysmetria, ... |
OMIM:302800 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... |
ORPHA:96 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety |
ORPHA:3198 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia |
OMIM:272800 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Wide nasal bridge |
ORPHA:89844 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
OMIM:613280 |
| Pyruvate Dehydrogenase Deficiency |
|
Multiple lipomas, Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Ataxia, T... |
ORPHA:765 |
| Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:607694 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor |
ORPHA:98764 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism |
ORPHA:178509 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Tremor, Dystonia |
OMIM:208920 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Writer's cramp, Choreoathetosis, Ataxia, Progressive spastic quadriplegi... |
OMIM:312080 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Tremor, Hypertonia |
OMIM:176500 |
| Nemaline Myopathy 5 |
|
Tremor, Hip contracture, Shoulder flexion contracture |
OMIM:605355 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Blepharospasm, Ataxia, Tremor |
OMIM:607876 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Abnormal posturing |
OMIM:614857 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor |
OMIM:618060 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with favorable response to dop... |
ORPHA:240071 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... |
OMIM:614381 |
| Stiff-Person Syndrome |
|
Anemia, Exaggerated startle response, Anxiety, Agoraphobia, Opisthotonus |
OMIM:184850 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
OMIM:300894 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Spasticity, Flexion contracture, Abnormal pyramidal sign, Spastic gait, Dysdiadochok... |
ORPHA:99027 |
| Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:168600 |
| Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response to dopamin... |
ORPHA:199351 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor... |
OMIM:618056 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia |
OMIM:616586 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia, Hypocalcemia |
OMIM:602361 |
| Unilateral Polymicrogyria |
|
Poor fine motor coordination, Abnormal posturing, Spastic tetraplegia, Hemiparesis, Pseudobulbar ... |
ORPHA:268943 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Apathy, Dystonia, Dementia |
OMIM:272750 |
| Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dystonia, Bradykinesia |
OMIM:615530 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Bradykinesia |
ORPHA:240094 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Parkinsonism, Rigidity, Torticollis, Limb ataxia, Ataxia, Tre... |
ORPHA:48818 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia, Wide nasal bridge, Anxiety |
ORPHA:438216 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, Dy... |
ORPHA:845 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen |
OMIM:617053 |
| Sandhoff Disease |
|
Exaggerated startle response, Hepatomegaly, Progressive psychomotor deterioration, Hepatosplenome... |
OMIM:268800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... |
OMIM:606002 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Irritability |
OMIM:616881 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Pearson Syndrome |
|
Anemia, Hyperalaninemia, Abnormality of the liver, Hypokalemia, Hypophosphatemia, Macronodular ci... |
ORPHA:699 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Irritability |
OMIM:617864 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Wide nasal bridge |
OMIM:601186 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Short nose |
OMIM:617527 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Bradykinesia |
OMIM:146500 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid apraxia, Abnor... |
OMIM:234200 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia, Short nose |
ORPHA:521426 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
| Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Exaggerated startle response, Wide nasal bridge, Short nose |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Decreased serum iron, Dystonia, Exaggerated startle response |
ORPHA:438213 |
