| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Optic Atrophy 2 |
|
Babinski sign, Tremor, Dysdiadochokinesis |
OMIM:311050 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor |
OMIM:616736 |
| Dystonia 31 |
|
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Arm dystonia, Writer's c... |
OMIM:619565 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor |
OMIM:160120 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Primary Dystonia, Dyt27 Type |
|
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... |
ORPHA:464440 |
| Spinocerebellar Ataxia Type 15/16 |
|
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... |
ORPHA:98769 |
| Dystonia 27 |
|
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia |
OMIM:616411 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... |
OMIM:314250 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... |
ORPHA:98807 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign |
ORPHA:401840 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor |
OMIM:608687 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:605407 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Flexion contracture, Ataxia, Spasticity, Babinski sign, Tremor |
OMIM:611105 |
| Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor |
OMIM:213000 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... |
OMIM:614561 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor |
OMIM:618425 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:610297 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... |
OMIM:611302 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... |
OMIM:260300 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:168100 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616366 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor |
OMIM:617018 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... |
ORPHA:101110 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor |
ORPHA:401901 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Chorea, Tremor |
ORPHA:494526 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Ataxia, Tremor |
OMIM:615945 |
| Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616187 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... |
OMIM:607317 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Writer's cramp, Abnormal posturing, Tremor |
OMIM:128100 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... |
OMIM:607671 |
| Dystonia, Dopa-Responsive |
|
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... |
OMIM:128230 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor |
OMIM:300660 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor |
OMIM:615528 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Limb dystonia, Torticollis, Writer's cramp, Myoclonus |
OMIM:614860 |
| Behr Syndrome |
|
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Hamstring contractures, B... |
OMIM:210000 |
| Primary Dystonia, Dyt2 Type |
|
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... |
ORPHA:99657 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:600116 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Myoclonus, Tremor |
OMIM:159900 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Ataxia, Spasticity, Tremor |
OMIM:615889 |
| Parkinson Disease 17 |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor |
OMIM:614203 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Ankle clonus, Parkinsonism, Dystonia, Multiple joint contractures, Oromandibular dystonia, Bradyk... |
ORPHA:521406 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Torticollis, Postural tremor |
ORPHA:210571 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Tremor |
OMIM:616710 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Ataxia, Tremor |
OMIM:616421 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor |
OMIM:608105 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... |
ORPHA:420485 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... |
ORPHA:216873 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... |
ORPHA:98762 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor |
OMIM:615362 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... |
OMIM:613135 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Hemiparesis, Tremor |
OMIM:141500 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... |
ORPHA:314632 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... |
ORPHA:251282 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Dystonia, Abnormal posturing, Tremor |
OMIM:304700 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus, Tremor |
OMIM:615924 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor |
OMIM:615768 |
| Corticobasal Syndrome |
|
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... |
ORPHA:454887 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... |
ORPHA:314978 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... |
OMIM:270500 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Ataxia, Tremor |
OMIM:614307 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor |
OMIM:607458 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... |
OMIM:606324 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Truncal ataxia, Dysmetria, Tremor |
OMIM:616127 |
| Spinocerebellar Ataxia 12 |
|
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxi... |
OMIM:604326 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Abnormal pyramidal sign, Ataxia, Tremor |
OMIM:301840 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor |
OMIM:615048 |
| Dystonia 7, Torsion |
|
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... |
OMIM:602124 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia |
OMIM:261630 |
| Parkinson Disease 14, Autosomal Recessive |
|
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor |
OMIM:612953 |
| Huntington Disease-Like 1 |
|
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... |
ORPHA:157941 |
| Dystonia 24 |
|
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Tremor |
OMIM:619561 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity |
OMIM:605909 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:610245 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... |
ORPHA:240103 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Tremor |
OMIM:617917 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor |
ORPHA:363710 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor |
OMIM:600363 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torsion dystonia, Blepharospasm, Torticollis, Tremor |
OMIM:224500 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor |
ORPHA:98763 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progressiv... |
ORPHA:225147 |
| Autosomal Spastic Paraplegia Type 58 |
|
Abnormal pyramidal sign, Dysmetria, Frequent falls, Intention tremor, Fasciculations, Gait ataxia... |
ORPHA:397946 |
| Dystonia 12 |
|
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor |
OMIM:128235 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor |
ORPHA:65684 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Dystonia, Tremor |
OMIM:615010 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor |
OMIM:213200 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Fasciculations, Tongue fasciculations, Increased intramuscular fat, Tremor |
ORPHA:276435 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Dystonia, Choreoathetosis, Tremor |
OMIM:612126 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hypertonia |
OMIM:261640 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... |
OMIM:300894 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Ataxia, Tremor |
OMIM:619099 |
| Spinocerebellar Ataxia 7 |
|
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... |
OMIM:164500 |
| Spinocerebellar Ataxia 48 |
|
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor |
OMIM:618093 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Ataxia, Tremor |
OMIM:617862 |
| Huntington Disease-Like 2 |
|
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea |
OMIM:606438 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor |
OMIM:612016 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor |
OMIM:612716 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Ankle flexion contracture, Tremor |
OMIM:616668 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... |
OMIM:606159 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... |
OMIM:213600 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Myoclonus, Tremor |
OMIM:614018 |
| X-Linked Dystonia-Parkinsonism |
|
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Bra... |
ORPHA:53351 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... |
ORPHA:363654 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:617145 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor |
OMIM:617836 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gait ataxia, Ri... |
OMIM:618877 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor |
OMIM:612438 |
| Parkinson Disease 21 |
|
Rigidity, Parkinsonism, Bradykinesia, Tremor |
OMIM:616361 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Ataxia, Gait ataxia, Spasticity, Tremor |
OMIM:616719 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor |
OMIM:619028 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus |
ORPHA:324588 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor |
OMIM:613608 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor |
OMIM:606658 |
| Parkinson-Dementia Syndrome |
|
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor |
OMIM:260540 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tetraparesis, Abnormal pyramidal sign, Reduced intraabdominal adipose tissue, Generalized lipodys... |
ORPHA:363400 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Ataxia, Tremor |
OMIM:278780 |
| Lopes-Maciel-Rodan Syndrome |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus |
OMIM:617435 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Titubation, Ataxia, Tremor |
OMIM:619405 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Abnormal pyramidal sign, Ataxia, Tremor |
OMIM:614947 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Dystonia, Resting tremor, Limb hypertonia |
OMIM:606703 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor |
ORPHA:139485 |
| Urocanase Deficiency |
|
Ataxia, Tremor |
OMIM:276880 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Action tremor, Ataxia |
ORPHA:210128 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Flexion contracture, Tremor, Spasticity, Babinski sign, Hypertonia |
OMIM:609260 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... |
OMIM:615157 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Chorea, Hyperkinetic movements, Tremor |
OMIM:619738 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Rigidity, Dysmetria, Tremor |
OMIM:618090 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... |
OMIM:619725 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:240085 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Resting tremor, Bradykinesia |
OMIM:614251 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Dysmetria, Ataxia, Tremor |
OMIM:618387 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Tremor |
ORPHA:329284 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Spasticity, Chorea, Clumsiness, Poor fine motor co... |
ORPHA:79263 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Tremor |
ORPHA:306669 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Ataxia, Myoclonus, Tremor |
OMIM:616494 |
| Neuroectodermal Melanolysosomal Disease |
|
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia |
ORPHA:33445 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... |
OMIM:300055 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Fasciculations, Tongue fasciculations, Myoclonus, Tremor |
OMIM:159950 |
| Hypermanganesemia With Dystonia 2 |
|
Achilles tendon contracture, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Oromandi... |
OMIM:617013 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular rigidity, Blepharo... |
ORPHA:99750 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Frequent falls, Opisthotonus, Generalized dystonia, Spasticity, Abnormal posturing |
ORPHA:216866 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Elbow flexion contracture, Tremor |
OMIM:619470 |
| Developmental And Epileptic Encephalopathy 42 |
|
Flexion contracture, Athetosis, Ataxia, Tremor, Hypertonia |
OMIM:617106 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Ataxia, Tremor |
OMIM:618637 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Ataxia, Tremor |
OMIM:300983 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Ataxia, Tremor |
OMIM:617831 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Atypical Rett Syndrome |
|
Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ... |
ORPHA:3095 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Cra... |
OMIM:607483 |
| Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Dystonia, Resting tremor, Involuntary movements, Bradykinesia, Slowed sl... |
ORPHA:391411 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Choreoathetosis, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor |
OMIM:233910 |
| Kufor-Rakeb Syndrome |
|
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Paraparesis, Rigidi... |
OMIM:606693 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Tremor |
ORPHA:101075 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Tremor |
OMIM:614831 |
| Hsd10 Disease |
|
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Myoclonus, Tremor |
ORPHA:391417 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Parkinsonism, Dystonia, Oculogyric crisis, Gait ataxia, Tremor |
OMIM:618049 |
| Autosomal Dominant Cerebellar Ataxia |
|
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... |
ORPHA:99 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal motor functio... |
ORPHA:98773 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Hip contracture, Tremor |
ORPHA:98902 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Frequent falls, Limb myoclonus, Clumsiness, Myoclonus, Tremor |
ORPHA:2590 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor |
ORPHA:70594 |
| Sandifer Syndrome |
|
Torticollis, Abnormal posturing, Hiatus hernia |
ORPHA:71272 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... |
OMIM:619313 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor |
OMIM:608768 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Spastic gait, Ataxia, Babinski sign, Spastic ataxia, Tremor |
OMIM:616795 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Tremor |
ORPHA:101078 |
| Dentatorubral Pallidoluysian Atrophy |
|
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... |
ORPHA:101 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor |
ORPHA:1170 |
| Dopa-Responsive Dystonia |
|
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Leg dystonia, Poor coordination,... |
ORPHA:255 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Achilles tendon contracture, Frequent falls, Dysmetria, Hand tremor, Paraparesis,... |
OMIM:302800 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Ataxia, Limb dystoni... |
ORPHA:352649 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Dysmetria, Apraxia, Gait ataxia, Spasticity, Tremor |
OMIM:617810 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Truncal ataxia, Dysmetria, Dysdiadochokinesis, Tremor |
OMIM:610185 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Ataxia, Dysdiadochokinesis, Hemiplegia/... |
ORPHA:96 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor |
ORPHA:79234 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal ataxia, Limb ataxia, ... |
OMIM:208920 |
| Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Poor fine motor coordination... |
OMIM:613280 |
| 4H Leukodystrophy |
|
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... |
ORPHA:289494 |
| Pyruvate Dehydrogenase Deficiency |
|
Multiple lipomas, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Ataxia, Cerebral palsy, Spa... |
ORPHA:765 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Spastic paraplegia, Tetraplegia, Spasticity, Babinski sign, Tremor |
OMIM:616586 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Tremor |
ORPHA:99014 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Parkinsonism, Tremor |
ORPHA:178509 |
| Gm2 Gangliosidosis, Ab Variant |
|
Cognitive impairment, Dystonia, Anxiety, Exaggerated startle response, Abnormal fear/anxiety-rela... |
ORPHA:309246 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Flexion contracture, Progressive cerebellar ataxia, Upper motor neuron dysfunction, P... |
ORPHA:137898 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... |
ORPHA:282166 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Wide nasal bridge |
ORPHA:89844 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Spast... |
OMIM:312080 |
| Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Tremor |
ORPHA:98764 |
| Tay-Sachs Disease |
|
Apathy, Dementia, Exaggerated startle response, Psychomotor deterioration |
OMIM:272800 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, Spasticity, Limb atax... |
OMIM:137440 |
| Nemaline Myopathy 5 |
|
Shoulder flexion contracture, Hip contracture, Tremor |
OMIM:605355 |
| Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Parkinsonism with favorable response to dop... |
OMIM:607060 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Dysmetria, Flexion contracture, Intention tremor, Ataxia, Gait ataxia, Babinski sign,... |
OMIM:616505 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Abnormal posturing |
OMIM:614857 |
| Sneddon Syndrome |
|
Chorea, Hemiparesis, Tremor |
ORPHA:820 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Flexion contracture, Ataxia, Tremor |
OMIM:278760 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Anxiety, Exaggerated startle response, Agoraphobia |
ORPHA:3198 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Ataxia, Gait ataxia, Myoclonus, Hypertonia |
OMIM:619092 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Tremor, Hypertonia |
OMIM:176500 |
| Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Eyelid apraxia, Tremor |
OMIM:615530 |
| Sialidosis Type 2 |
|
Flexion contracture, Ataxia, Inguinal hernia, Umbilical hernia, Tremor |
ORPHA:87876 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Ataxia, Oculomotor apraxia, Tremor |
OMIM:618060 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor |
OMIM:313200 |
| Peroxisome Biogenesis Disorder 5B |
|
Oculomotor apraxia, Dysmetria, Ataxia, Tremor |
OMIM:614867 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Dysmetria, Tremor, Gait ataxia, Truncal titubation, Hypertonia |
OMIM:618056 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Ataxia, Myoclonus, Tremor |
OMIM:607876 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Axial dystonia, Blepharospasm, Bradykinesia, Slo... |
ORPHA:240071 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Spastic paraplegia, Tremor |
ORPHA:477673 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Ataxia, Gait ataxia, Spasticity, ... |
OMIM:614381 |
| Cln5 Disease |
|
Dysmetria, Poor gross motor coordination, Ataxia, Spasticity, Dysdiadochokinesis, Abnormal centra... |
ORPHA:228360 |
| Ddost-Cdg |
|
Lipodystrophy, Oromotor apraxia, Tremor |
ORPHA:300536 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal pyramidal sign, Dystonia, Focal dystonia, Generalized dystonia, Apraxia, Oromandibular d... |
ORPHA:52368 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor |
OMIM:615578 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Parkinsonism, Lower limb spasticity, Resting tremor, Tremor |
ORPHA:3077 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Upper motor... |
ORPHA:206443 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Gait ataxia, Spasticity, Oculomotor apraxia, Tremor |
ORPHA:529665 |
| Saccharopinuria |
|
Gait ataxia, Tremor, Spastic diplegia |
ORPHA:3124 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tetraparesis, Abnormal pyramidal sign, Dysmetria, Action tremor, Dysdiadochokinesis, Spastic gait... |
ORPHA:99027 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Bradykinesia, Ataxia, Poor fine motor coordination, Tremor |
ORPHA:36387 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Parkinson Disease, Late-Onset |
|
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity, Tremor |
OMIM:168600 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Limb dystonia, Rigidity, Spasticity |
OMIM:616840 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Gm2-Gangliosidosis, Ab Variant |
|
Apathy, Dementia, Dystonia, Exaggerated startle response |
OMIM:272750 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Emotional lability, Irritability, Lim... |
OMIM:608643 |
| Stiff-Person Syndrome |
|
Opisthotonus, Anxiety, Anemia, Exaggerated startle response, Agoraphobia |
OMIM:184850 |
| Sneddon Syndrome |
|
Hemiplegia, Atrophic scars, Tremor |
OMIM:182410 |
| Myopathy With Extrapyramidal Signs |
|
Frequent falls, Dystonia, Choreoathetosis, Ataxia, Clonus, Chorea, Clumsiness, Abnormality of ext... |
OMIM:615673 |
| Nipah Virus Disease |
|
Myoclonus, Tremor |
ORPHA:99825 |
| Adult-Onset Dystonia-Parkinsonism |
|
Dystonia, Focal dystonia, Bradykinesia, Rigidity, Spasticity, Progressive extrapyramidal movement... |
ORPHA:199351 |
| Aceruloplasminemia |
|
Parkinsonism, Dystonia, Blepharospasm, Involuntary movements, Craniofacial dystonia, Ataxia, Gait... |
ORPHA:48818 |
| Unilateral Polymicrogyria |
|
Spastic tetraplegia, Involuntary movements, Hemiparesis, Myoclonus, Poor fine motor coordination,... |
ORPHA:268943 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Ataxia, Rigidity, Spasticity, Abnormality of coordination... |
ORPHA:442835 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Hypocalcemia, Asplenia |
OMIM:602361 |
| O'Sullivan-Mcleod Syndrome |
|
Fasciculations, Tremor |
ORPHA:99965 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Parkinsonism, Dystonia, Oromandibular dystonia, Ataxia, Spasticity, Babinski sign, Abnormality of... |
OMIM:614298 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Spastic tetraplegia, Tremor |
OMIM:612164 |
| Classic Phenylketonuria |
|
Paraplegia, Hypertonia, Hemiplegia, Tremor |
ORPHA:79254 |
| Mirage Syndrome |
|
Hypoplastic spleen, Leukopenia, Hyponatremia, Hyperkalemia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Paraplegia, Spasticity, Hemiparesis, Tremor |
OMIM:105210 |
| Perry Syndrome |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:168605 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Fasciculations, Polyminimyoclonus, Tremor |
OMIM:619574 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Anxiety, Wide nasal bridge, Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Myopathy, Mitochondrial, And Ataxia |
|
Multiple lipomas, Dysmetria, Ataxia, Truncal ataxia, Dysdiadochokinesis, Limb ataxia, Tremor |
OMIM:617675 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Abnormal pyramidal sign, Dystonia, Head tremor, Oculomotor apraxia, Gait ataxia, Chorea, Progress... |
OMIM:606002 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, At... |
OMIM:234200 |
| Tetanus |
|
Opisthotonus, Spasticity of pharyngeal muscles, Tremor, Rigidity, Hypertonia |
ORPHA:3299 |
| Progressive Supranuclear Palsy |
|
Dystonia, Blepharospasm, Bradykinesia, Rigidity, Tremor |
ORPHA:683 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypertonia, Parkinsonism, Oculogyric crisis, Cerebral palsy, Tremor |
ORPHA:1578 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Progressive psychomotor deterioration, Exaggerated startle resp... |
OMIM:268800 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Pancytopenia, Hypoplastic spleen, Abnormality of the liver, He... |
ORPHA:699 |
| Tay-Sachs Disease |
|
Incoordination, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Fasciculations, Tremor... |
ORPHA:845 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Athetosis, Ataxia, Limb dystonia, Poor motor coordination, Rigidity, Chorea, Tremor |
ORPHA:25 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Wide nasal bridge |
OMIM:601186 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Bradykinesia, Ataxia, Rigidity, Babinski sign, Tremor |
OMIM:146500 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Tremor |
ORPHA:713 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Serotonin Syndrome |
|
Tremor, Rigidity, Clonus, Myoclonus, Hypertonia |
ORPHA:43116 |
| Young-Onset Parkinson Disease |
|
Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor |
ORPHA:2828 |
| Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Lower limb hypertonia, Babinski sign, ... |
ORPHA:447753 |
| Alternating Hemiplegia Of Childhood |
|
Tetraparesis, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Episodic... |
ORPHA:2131 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cognitive impairment, Short nose, Exaggerated startle response |
OMIM:617527 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Dystonia, Athetosis, Ataxia, Speech apraxia, Chorea, Hyperkinetic movements, Tremor |
OMIM:615356 |
| Supranuclear Palsy, Progressive, 1 |
|
Parkinsonism, Axial dystonia, Bradykinesia, Limb dystonia, Rigidity, Eyelid apraxia, Retrocollis,... |
OMIM:601104 |
| Tyrosinemia Type 2 |
|
Ataxia, Tremor |
ORPHA:28378 |
| Niemann-Pick Disease Type C |
|
Abnormal pyramidal sign, Frequent falls, Dystonia, Axial dystonia, Intention tremor, Cataplexy, L... |
ORPHA:646 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Short nose, Exaggerated startle response |
ORPHA:521426 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Aicardi-Goutières Syndrome |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Multiple joint contractures, Spastic tetraplegia, ... |
ORPHA:51 |
| Metachromatic Leukodystrophy |
|
Incoordination, Frequent falls, Dystonia, Ataxia, Progressive spasticity, Decerebrate rigidity, T... |
ORPHA:512 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Wide nasal bridge, Short nose, Exaggerated startle response |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Anemia, Dystonia, Exaggerated startle response |
ORPHA:438213 |
