| Optic Atrophy 2 |
|
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis |
OMIM:311050 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:619491 |
| Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
| Episodic Ataxia, Type 1 |
|
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia |
OMIM:160120 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements |
OMIM:611092 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
| Primary Dystonia, Dyt13 Type |
|
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... |
ORPHA:98807 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Cerebellar Ataxia, Cayman Type |
|
Abnormal retinal morphology, Nonprogressive cerebellar ataxia, Gait ataxia, Intention tremor, Tru... |
ORPHA:94122 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:607688 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... |
OMIM:614561 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... |
OMIM:616053 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Babinski sign, Ataxia, Tremor |
OMIM:611105 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus |
OMIM:616921 |
| Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Progressive cerebellar ataxia, Pigmentary retinopathy, Macular degeneration, Abnormal... |
OMIM:164500 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Ataxia, Tremor |
OMIM:615945 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Dystonia 24 |
|
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia |
OMIM:615034 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Leukoencephalopathy With Ataxia |
|
Limb ataxia, Optic neuropathy, Retinoschisis, Gait ataxia, Action tremor, Chorioretinal atrophy, ... |
OMIM:615651 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
| Dystonia 23 |
|
Limb dystonia, Torticollis, Axial dystonia, Writer's cramp, Head tremor, Myoclonus |
OMIM:614860 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... |
ORPHA:216873 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... |
ORPHA:99657 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia |
ORPHA:309169 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... |
OMIM:128230 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
| Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:614203 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Hemiballismus, Tremor, Chorea |
ORPHA:494526 |
| Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
| Oculorenocerebellar Syndrome |
|
Spastic diplegia, Choreoathetosis, Retinal degeneration |
OMIM:257970 |
| Macular Degeneration, Age-Related, 1 |
|
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia |
ORPHA:210571 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... |
ORPHA:420485 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... |
OMIM:607317 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Intention tremo... |
ORPHA:314978 |
| Birdshot Chorioretinopathy |
|
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... |
ORPHA:179 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... |
OMIM:606324 |
| Dystonia 7, Torsion |
|
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... |
OMIM:602124 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... |
ORPHA:98762 |
| Corticobasal Syndrome |
|
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... |
ORPHA:454887 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus, Writer's cramp |
OMIM:159900 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... |
ORPHA:314632 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Torsion dystonia, Blepharospasm |
OMIM:224500 |
| Spinocerebellar Ataxia 18 |
|
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria |
OMIM:607458 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Aplasia/Hypoplasia of the macula, Ataxia, Rigidity, Tremor, Macular dystrophy, Abnorm... |
ORPHA:33445 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia |
OMIM:615924 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Hemiparesis, Ataxia |
OMIM:141500 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... |
OMIM:617284 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
| Spinocerebellar Ataxia 12 |
|
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... |
OMIM:604326 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... |
ORPHA:521406 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia |
OMIM:605909 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... |
OMIM:613135 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia |
ORPHA:363710 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... |
OMIM:213600 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
OMIM:600363 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... |
ORPHA:240103 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus |
ORPHA:98763 |
| Urocanase Deficiency |
|
Ataxia, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria |
OMIM:276880 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Hemiparesis, Ataxia, Pigmentary retinopathy, Tremor, Intention tremor, Rod-cone dystr... |
OMIM:614307 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Dystonia, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegia, Spastic ga... |
ORPHA:251282 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Parkinson Disease 21 |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:616361 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Spinocerebellar Ataxia 50 |
|
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor |
OMIM:620158 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Nonprogressive cerebellar ataxia, Clonus, Dysdiadochokinesis, Intention tremor, Babinski sign, Dy... |
OMIM:301310 |
| Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Chorea, Resting tremor, Myoclonus, Dystonia |
ORPHA:324588 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Dystonia, Tremor |
OMIM:619651 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria |
OMIM:610245 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Retrocollis, Postural tremor, Generalized d... |
OMIM:612067 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Optic atrophy, Dystonia, Spastic paraparesis |
ORPHA:329284 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Chorea, Myoclonus, Resting tremor, Involuntary movements, Choreoathetosis, Dysto... |
OMIM:606703 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Bradykinesia, Resting tremor, Babinski... |
ORPHA:363654 |
| Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria |
OMIM:618093 |
| Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614251 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Progressive cerebellar ataxia, Vestibular areflexia, Dysdiadochokinesis, Gait ataxia, Intention t... |
ORPHA:504476 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... |
ORPHA:53351 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... |
ORPHA:397946 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... |
OMIM:606159 |
| Spinocerebellar Ataxia 15 |
|
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Optic atrophy, Ataxia, Tremor |
OMIM:300983 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... |
OMIM:617145 |
| Leber Optic Atrophy |
|
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Postural tremor, Leber opti... |
OMIM:535000 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:617836 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Optic atrophy, Choreoathetosis, Dystonia |
OMIM:612438 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria |
OMIM:619028 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Pigmentary retinopathy, Rigidity, Laryngeal dystonia, Fasciculatio... |
ORPHA:99 |
| Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
| Urocanic Aciduria |
|
Gait ataxia, Action tremor, Truncal ataxia, Ataxia |
ORPHA:210128 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... |
OMIM:612736 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Ataxia, Tremor |
OMIM:278780 |
| Hsd10 Disease |
|
Ataxia, Rigidity, Tremor, Myoclonus, Optic atrophy, Choreoathetosis, Spastic paraparesis |
ORPHA:391417 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria |
OMIM:617810 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria |
OMIM:213200 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Abnormality of retin... |
ORPHA:96 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Optic atrophy, Ataxia |
ORPHA:99014 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia |
OMIM:619738 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Optic atrophy, Tremor |
OMIM:619470 |
| Peroxisome Biogenesis Disorder 5B |
|
Retinal dystrophy, Oculomotor apraxia, Ataxia, Tremor, Rod-cone dystrophy, Dysmetria |
OMIM:614867 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Incoordination, Dystonia |
OMIM:618049 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Tremor |
OMIM:616494 |
| Behr Syndrome |
|
Frequent falls, Progressive spasticity, Ataxia, Tremor, Babinski sign, Optic atrophy, Hypoplastic... |
OMIM:210000 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia |
ORPHA:139485 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Bradykinesia, Dystonia |
ORPHA:306669 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dystonia, Ataxia, Tremor, Lower limb spasticity, Dysmetria |
OMIM:617916 |
| Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Optic neuropathy, Dysdiadochok... |
ORPHA:101 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia, Ataxia |
OMIM:617831 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... |
OMIM:618877 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Parkinsonism, Clumsiness, Postural tremor, Rigidity, Bradykinesia, Resting tremor, Dystonia |
OMIM:619911 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Focal d... |
ORPHA:99750 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... |
ORPHA:79263 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal ataxia, Dysmetria |
OMIM:610185 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... |
OMIM:183090 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradykinesia, ... |
ORPHA:240085 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hypertonia, Choreoathetosi... |
OMIM:261640 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... |
OMIM:615157 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Myoclonus, Ataxia |
OMIM:614018 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Cerebral palsy, Dystonia |
ORPHA:70594 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Rigidity, Tremor, Choreoathetosis, Dystonia |
OMIM:233910 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... |
OMIM:606693 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Axial dystonia, Clumsiness,... |
OMIM:612953 |
| Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... |
ORPHA:98773 |
| 4H Leukodystrophy |
|
Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Dysdiadochokinesis... |
ORPHA:289494 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dystonia, Dysmetria |
OMIM:607694 |
| Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysmetria |
OMIM:614831 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Incoordination |
OMIM:608768 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Frequent falls, Limb ataxia, Tremor, Gait ataxia |
OMIM:616719 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Ataxia, Spastic ataxia, Tremor, Spastic gait, Babinski sign |
OMIM:616795 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Hypertonia, Ataxia, Athetosis |
OMIM:617106 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Ankle clonus, Tremor, Bradykinesia, Hypertonia, Dystonia |
OMIM:617435 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Ataxia, Cogwheel rigidity, Chorea, Bradykinesia, Intention tremor, Myoclonus, Resti... |
OMIM:619725 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Gait ataxia, Poor motor coordination, Dysmetria |
ORPHA:1170 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Ataxia, Limb hypertonia, Rigidity, Retinal degeneration, Tremor, Abnormality of coord... |
ORPHA:442835 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... |
OMIM:617013 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Abnormality o... |
ORPHA:352649 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Oromandibular dystonia,... |
OMIM:128100 |
| Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykin... |
OMIM:607060 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Rigidity, Tremor |
OMIM:176500 |
| Aceruloplasminemia |
|
Parkinsonism, Limb ataxia, Torticollis, Ataxia, Blepharospasm, Macular degeneration, Rigidity, Ab... |
ORPHA:48818 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive spasticity, Progressive cerebellar ataxia, Clumsiness, Spastic ataxia, Tremor, Slurre... |
ORPHA:137898 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, Spastic paraplegia, Res... |
OMIM:300055 |
| Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Bradykinesia, Poor ... |
OMIM:613280 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Titubation, Ataxia, Dysmetria |
OMIM:619405 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Gait ataxia, Intention tremor, Myoclonus, Babinski sign, Optic atrophy, Hypertoni... |
OMIM:616505 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Parkinsonism, Abnormal vestibulo-ocular reflex, Ataxia, Macular degeneration, Rigidit... |
ORPHA:247234 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Spastic tetraplegia, Ataxia, Limb hypertonia, Athetosis, Tremor, Optic atrophy, Hypertonia, Rod-c... |
OMIM:617710 |
| Perry Syndrome |
|
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention t... |
OMIM:614381 |
| Gerstmann-Straussler Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... |
OMIM:137440 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Oculomotor apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria |
ORPHA:529665 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Hand tremor, Tremor, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal pyramidal sign, Ankle clonus, Apraxia, Generalized dystonia, Focal dystonia, Tremor, Oro... |
ORPHA:52368 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Ataxia, Generalized dystonia, Head titubation, Writer's cramp, Tremor, I... |
OMIM:312080 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Oculomotor apraxia, Ataxia, Chorea, Tremor, Gait ataxia, Truncal ataxia, Dystonia |
OMIM:208920 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Myoclonus, Ataxia, Blepharospasm |
OMIM:607876 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Tremor, Incoordination |
OMIM:618060 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
OMIM:300894 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Axial dystonia, Parkinsonism with favorable... |
ORPHA:240071 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Generalized dystonia, Abnormality of e... |
OMIM:614298 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Abnormal optic nerve morphology, Spastic paraplegia, Babinski sign |
ORPHA:83629 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Ataxia, Optic disc pallor, Tremor, Spastic paraplegia, Babinski sign, Dysmetria |
OMIM:618527 |
| Parkinson Disease, Late-Onset |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Dystonia |
OMIM:168600 |
| Migraine, Familial Hemiplegic, 2 |
|
Hemiparesis, Apraxia, Hemiplegia, Tremor, Gait ataxia, Episodic ataxia, Dysmetria |
OMIM:602481 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Pseudobulbar paralysis, Tremor, Tetraplegia, Spastic paraplegia, Babinski sign |
OMIM:616586 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia, Retinal dystrophy |
ORPHA:713 |
| Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Rigidity... |
ORPHA:199351 |
| Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Eyelid apraxia, Involuntary movements, Dystonia |
OMIM:615530 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Oculomotor apraxia, Blepharospasm, Spastic dysarthria, Rigidity, Tremor, Bradykinesia |
ORPHA:240094 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Blepharospasm, Pigmentary retinopathy,... |
OMIM:234200 |
| Tay-Sachs Disease |
|
Frequent falls, Progressive spasticity, Clumsiness, Ankle clonus, Decerebrate rigidity, Cherry re... |
ORPHA:845 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Ataxia, Poor motor coordination, Rigidity, Chorea, Tremor, Athetosis, Dystonia, Re... |
ORPHA:25 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Limb hypertonia, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Hypertoni... |
OMIM:618056 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Spastic gait, Ataxia, Clonus, Upper limb postu... |
ORPHA:99027 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Progressive gait ataxia, Chorea, Tremor... |
OMIM:606002 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Parkinsonism, Oculogyric crisis, Tremor, Cerebral palsy, Hypertonia |
ORPHA:1578 |
| Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Ataxia, Rigidity, Tremor, Bradykinesia, Babinski sign |
OMIM:146500 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Parkinsonism, Retrocollis, Axial dystonia, Rigidity, Tremor, Bradykinesia, Eyelid ... |
OMIM:601104 |
