| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Dystonia 31 |
|
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Parkinsoni... |
OMIM:619565 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech |
OMIM:160120 |
| Tremor, Hereditary Essential, 1 |
|
Action tremor, Hand tremor, Postural tremor |
OMIM:190300 |
| Dystonia 27 |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... |
OMIM:616411 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... |
ORPHA:464440 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... |
ORPHA:98769 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... |
OMIM:314250 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401840 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Spinocerebellar Ataxia 20 |
|
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor |
OMIM:608687 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Tremor, Hereditary Essential, 5 |
|
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... |
ORPHA:98807 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus |
OMIM:614937 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor |
OMIM:618866 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia, Flexion contracture |
OMIM:611105 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor |
OMIM:611092 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... |
OMIM:614561 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism |
OMIM:300911 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:610297 |
| Segawa Syndrome, Autosomal Recessive |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... |
OMIM:605407 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia |
OMIM:618425 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus |
ORPHA:401901 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements |
OMIM:611031 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia |
OMIM:617018 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... |
OMIM:260300 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... |
OMIM:616053 |
| Dystonia 11, Myoclonic |
|
Tremor, Myoclonus, Torticollis, Writer's cramp |
OMIM:159900 |
| Spinocerebellar Ataxia Type 20 |
|
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... |
ORPHA:101110 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls |
OMIM:616921 |
| Sandhoff Disease, Adult Form |
|
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia |
ORPHA:309169 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria |
OMIM:612437 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Tremor, Chorea |
ORPHA:494526 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Dystonia, Frequent falls, Myoclonus |
OMIM:619647 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... |
OMIM:611302 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Dystonia, Dopa-Responsive |
|
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... |
OMIM:128230 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... |
OMIM:607671 |
| Dystonia 23 |
|
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus |
OMIM:614860 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticolli... |
OMIM:128100 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... |
ORPHA:99657 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... |
OMIM:607317 |
| Dystonia 24 |
|
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia |
OMIM:615034 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus |
OMIM:615957 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... |
OMIM:606324 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Fasciculations, Tremor |
OMIM:182980 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... |
ORPHA:521406 |
| Dystonia 16 |
|
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor |
ORPHA:210571 |
| Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism |
OMIM:614203 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Spasticity, Tremor, Dystonia |
OMIM:304700 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... |
ORPHA:420485 |
| Spinocerebellar Ataxia 12 |
|
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... |
OMIM:604326 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... |
ORPHA:79262 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech |
OMIM:609161 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... |
ORPHA:98762 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism |
OMIM:605909 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... |
ORPHA:314632 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... |
ORPHA:216873 |
| Corticobasal Syndrome |
|
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... |
ORPHA:454887 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis |
OMIM:615924 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus |
OMIM:615768 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ... |
ORPHA:251282 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... |
ORPHA:314978 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria |
OMIM:607458 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Dystonia 28, Childhood-Onset |
|
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... |
OMIM:617284 |
| Dystonia 7, Torsion |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... |
OMIM:602124 |
| Huntington Disease-Like 1 |
|
Bradykinesia, Abnormal posturing, Chorea, Incoordination, Poor fine motor coordination, Frequent ... |
ORPHA:157941 |
| Dystonia 12 |
|
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism |
OMIM:128235 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Tremor, Myoclonus |
OMIM:615400 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... |
OMIM:613135 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... |
OMIM:213600 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:620482 |
| Spinocerebellar Ataxia Type 37 |
|
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... |
ORPHA:240103 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Bradykinesia, Babinski sign, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Ch... |
ORPHA:225147 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Dystonia, Myoclonus |
OMIM:619651 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia |
OMIM:600363 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torsion dystonia, Tremor, Blepharospasm, Torticollis |
OMIM:224500 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus |
ORPHA:98763 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... |
ORPHA:397946 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... |
OMIM:606703 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria |
OMIM:618093 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Fasciculations, Tongue fasciculations, Tremor, Increased intramuscular fat |
ORPHA:276435 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus |
OMIM:615362 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor |
ORPHA:65684 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... |
OMIM:164500 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria |
OMIM:610245 |
| Spinocerebellar Ataxia 50 |
|
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor |
OMIM:620158 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus |
ORPHA:324588 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... |
OMIM:600116 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... |
ORPHA:363654 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... |
OMIM:606159 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Ataxia, Abnor... |
OMIM:617145 |
| X-Linked Dystonia-Parkinsonism |
|
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... |
ORPHA:53351 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia |
OMIM:617836 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:618587 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... |
OMIM:618877 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism |
OMIM:619738 |
| Parkinson Disease 21 |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism |
OMIM:616361 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... |
OMIM:612736 |
| Spinocerebellar Ataxia 15 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor |
OMIM:606658 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized lipodystrophy, Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxi... |
ORPHA:363400 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Dysmetria |
OMIM:213200 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism |
OMIM:618049 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Parkinson-Dementia Syndrome |
|
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism |
OMIM:260540 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Spasticity, Frequent falls, Opisthotonus, Generalized dystonia |
ORPHA:216866 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria |
OMIM:619028 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign |
ORPHA:139485 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism |
ORPHA:306669 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysmetria |
OMIM:617916 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ... |
ORPHA:240085 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Tremor, Ataxia, Myoclonus |
OMIM:616494 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture |
OMIM:617106 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism, Rigidity |
OMIM:614251 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Myo... |
ORPHA:79263 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Titubation, Dysmetria |
OMIM:619405 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... |
OMIM:615157 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Behr Syndrome |
|
Babinski sign, Adductor longus contractures, Truncal ataxia, Tremor, Progressive spasticity, Freq... |
OMIM:210000 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Dysmetria |
OMIM:610185 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... |
OMIM:619725 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... |
OMIM:261640 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... |
ORPHA:99750 |
| Hypermanganesemia With Dystonia 2 |
|
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... |
OMIM:617013 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia |
ORPHA:70594 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis |
OMIM:612438 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... |
OMIM:606693 |
| Parkinson Disease 14, Autosomal Recessive |
|
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... |
OMIM:612953 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Babinski sign, Hypertonia, Truncal titubation, Chorea, Craniofacial dystonia, Frequent falls, Gai... |
OMIM:607483 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... |
OMIM:619313 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Wrist flexion contrac... |
OMIM:300055 |
| Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Hiatus hernia |
ORPHA:71272 |
| Spinocerebellar Ataxia With Epilepsy |
|
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm... |
ORPHA:254881 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysmetria |
OMIM:614831 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia |
OMIM:614307 |
| Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,... |
ORPHA:98773 |
| Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... |
ORPHA:101 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia |
OMIM:616719 |
| Glutathionuria |
|
Action tremor, Dysdiadochokinesis, Tremor |
OMIM:231950 |
| Spinocerebellar Ataxia 42 |
|
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Abnormal pyramidal sign |
OMIM:616795 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A... |
ORPHA:352649 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria |
ORPHA:1170 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign |
OMIM:608768 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Hip contracture, Tremor |
ORPHA:98902 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Incoordination, Tremor, Frequent falls, Paraparesis, Achilles tendon contracture, ... |
OMIM:302800 |
| Ataxia With Vitamin E Deficiency |
|
Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami... |
ORPHA:96 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... |
OMIM:137440 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,... |
OMIM:613280 |
| Pyruvate Dehydrogenase Deficiency |
|
Multiple lipomas, Spasticity, Tremor, Cerebral palsy, Dystonia, Ataxia, Abnormal pyramidal sign, ... |
ORPHA:765 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism |
ORPHA:178509 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, Dysmetria |
OMIM:607694 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Wide nasal bridge |
ORPHA:89844 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Hypertonia, Tremor, Gait ataxia, Intention tremor, Ataxia, Flexion contracture, My... |
OMIM:616505 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Truncal ataxia, Tremor, Gait ataxia, Hand tremor |
ORPHA:98764 |
| Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Intention tremor, Spastic paraplegia, Head titubation, Dystonia, Ataxia, ... |
OMIM:312080 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment |
ORPHA:309246 |
| Parkinson Disease 8, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607060 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia |
OMIM:208920 |
| Stormorken Syndrome |
|
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl... |
OMIM:185070 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Hypertonia, Tremor, Spasticity, Rigidity |
OMIM:176500 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:618060 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor |
OMIM:313200 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis |
OMIM:300894 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Shoulder flexion contracture, Hip contracture, Tremor |
OMIM:605355 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Inguinal hernia |
OMIM:614857 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Blepharospasm, Ataxia, Myoclonus |
OMIM:607876 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Irritability, Torticollis, Oculogyric crisis, Emotional lability, Athetosis, Blepharospasm, Limb ... |
OMIM:608643 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... |
ORPHA:240071 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... |
OMIM:614381 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... |
OMIM:618056 |
| Stiff-Person Syndrome |
|
Depression, Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spastic gait, Babinski sign, Hypertonia, Spasticity, Tremor, Upper motor neuron dysfunction, Dysd... |
ORPHA:99027 |
| Migraine, Familial Hemiplegic, 2 |
|
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria |
OMIM:602481 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Pseudobulbar paralysis |
OMIM:616586 |
| Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism |
OMIM:168600 |
| Unilateral Polymicrogyria |
|
Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, ... |
ORPHA:268943 |
| Adult-Onset Dystonia-Parkinsonism |
|
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... |
ORPHA:199351 |
| Aceruloplasminemia |
|
Limb ataxia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait ataxia, Invo... |
ORPHA:48818 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia |
OMIM:615530 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Exaggerated startle response |
OMIM:620114 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Tremor, Opisthotonus |
OMIM:250800 |
| Tay-Sachs Disease |
|
Memory impairment, Depression, Increased serum beta-hexosaminidase, Tremor, Short attention span,... |
ORPHA:845 |
| O'Sullivan-Mcleod Syndrome |
|
Fasciculations, Tremor |
ORPHA:99965 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... |
OMIM:614298 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Wide nasal bridge, Short attention span, Exaggerated startle response |
ORPHA:438216 |
| Mirage Syndrome |
|
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:617053 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response |
OMIM:616881 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Short attention span, Exaggerated startle response |
OMIM:617864 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Dementia |
OMIM:272750 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Progressive psychomotor deterioration, Exaggerated startle resp... |
OMIM:268800 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Head tremor, Gait ataxia, Dystonia, Progressive ... |
OMIM:606002 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
| Ciliary Dyskinesia, Primary, 53 |
|
Hypoplastic spleen, Polysplenia, Abdominal situs inversus |
OMIM:620642 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism |
ORPHA:1578 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Neonatal death, Wide nasal bridge, Hypoplastic spleen |
OMIM:601186 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... |
OMIM:612716 |
| Pearson Syndrome |
|
Hepatomegaly, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, ... |
ORPHA:699 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Irritability, Exaggerated startle response, Hypernatremia, Dystonia, Thrombocytopenia, Hyperglyci... |
OMIM:620423 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Multiple System Atrophy 1, Susceptibility To |
|
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism |
OMIM:146500 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Short nose, Exaggerated startle response, Cognitive impairment |
OMIM:617527 |
| Asparagine Synthetase Deficiency |
|
Irritability, Tremor, Hypoasparaginemia, Exaggerated startle response |
OMIM:615574 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl... |
OMIM:234200 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Short nose, Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response |
OMIM:620451 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
| Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response |
OMIM:618367 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Short nose, Exaggerated startle response, Attention deficit hyperactivity disorder, Wi... |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Anemia, Decreased circulating iron concentration, Exaggerated startle response |
ORPHA:438213 |
