Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia |
OMIM:168885 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Impaired temperature sensation, Progressive cerebellar ataxia |
OMIM:212890 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity |
ORPHA:2672 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia |
ORPHA:1182 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking |
ORPHA:85292 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia |
ORPHA:94122 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations |
OMIM:613728 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations |
ORPHA:85162 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Gait ataxia |
OMIM:601238 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Limb ataxia |
ORPHA:211017 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Distal sensory impairment |
OMIM:212710 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:284282 |
Epilepsy, Progressive Myoclonic, 11 |
|
Intention tremor, Ataxia, Rigidity, Myoclonus |
OMIM:618876 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... |
OMIM:617282 |
Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia |
OMIM:619061 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity |
ORPHA:401849 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walkin... |
OMIM:500003 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosis |
OMIM:616230 |
Hereditary Geniospasm |
|
Chin myoclonus |
ORPHA:53372 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... |
ORPHA:210571 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:615957 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Ataxia |
ORPHA:85338 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia |
OMIM:617133 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... |
ORPHA:284332 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:117210 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Developmental And Epileptic Encephalopathy 37 |
|
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... |
OMIM:616981 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus |
OMIM:600143 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Steppage gait |
ORPHA:99940 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Dystonia |
OMIM:618497 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... |
ORPHA:254343 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Unsteady gait |
OMIM:619988 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia |
OMIM:617829 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Difficulty walking, Dysmetria |
OMIM:619191 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity |
OMIM:608029 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk |
OMIM:619333 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance |
OMIM:210000 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Developmental And Epileptic Encephalopathy 38 |
|
Hypertonia, Ataxia, Dystonia |
OMIM:617020 |
Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia, Dystonia |
OMIM:618285 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... |
ORPHA:98811 |
Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor |
OMIM:615034 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spasticity, Dyst... |
OMIM:614254 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations |
OMIM:608030 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Difficulty walking, Progressive spastic paraplegia, Limb tremor, Spastic gait, Low... |
ORPHA:401820 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function |
OMIM:616140 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Dystonia |
OMIM:617493 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... |
ORPHA:13 |
Combined Saposin Deficiency |
|
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations |
OMIM:611721 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Babinski sign, Limb fasciculations, Spastic paraplegia, Gait disturbance, Spastic gait, Tongue fa... |
ORPHA:329475 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination |
OMIM:130950 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia |
OMIM:615159 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... |
OMIM:609270 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
Dystonia 7, Torsion |
|
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:604187 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Gait ataxia |
OMIM:616540 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Spasticity, Myoclonus |
OMIM:545000 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... |
OMIM:618218 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... |
ORPHA:276198 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... |
OMIM:133190 |
Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:614820 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity, Myoclonus |
OMIM:616494 |
Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Chorea, Kinetic tremor, Gait ataxia,... |
ORPHA:98756 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:619738 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intention tremor, Dysdiadochok... |
ORPHA:1175 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Spastic gait, Lower limb spas... |
OMIM:610357 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
Dentatorubral Pallidoluysian Atrophy |
|
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... |
ORPHA:101 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Babinski sign, Abnormal pyramidal sign, Distal sensory impairment... |
OMIM:616688 |
Spinocerebellar Ataxia 46 |
|
Positive Romberg sign, Gait ataxia, Dysmetria, Limb ataxia |
OMIM:617770 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis |
OMIM:606183 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Spastic gait, ... |
ORPHA:306511 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... |
ORPHA:352641 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Dystonia 34, Myoclonic |
|
Torticollis, Hand tremor, Myoclonus, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia |
OMIM:619724 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... |
OMIM:619862 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Dystonia |
OMIM:619065 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Myoclonus, Dystonia |
OMIM:616398 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Fasciculations, Difficulty walking |
OMIM:615575 |
Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
Creutzfeldt-Jakob Disease |
|
Myoclonus, Gait ataxia, Hemiparesis, Extrapyramidal muscular rigidity |
OMIM:123400 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:204300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, F... |
OMIM:616127 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus, Clonus |
OMIM:617290 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia |
OMIM:618317 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
OMIM:609161 |
Episodic Ataxia Type 7 |
|
Hyperkinetic movements, Episodic ataxia |
ORPHA:209970 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... |
ORPHA:101150 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity... |
OMIM:614487 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Fasciculations, Tongue fasciculations |
OMIM:613435 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Abnormal pyramidal sign, Babi... |
OMIM:617225 |
Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia |
OMIM:616267 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
Episodic Ataxia, Type 5 |
|
Ataxia, Truncal ataxia, Myoclonus, Episodic ataxia |
OMIM:613855 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Postural tremo... |
ORPHA:100988 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia |
OMIM:233910 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor |
OMIM:254900 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Tetraparesis, Frequen... |
ORPHA:225154 |
Amyotrophic Lateral Sclerosis 18 |
|
Fasciculations, Spasticity |
OMIM:614808 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... |
ORPHA:248111 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations |
OMIM:619141 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intention tremor, Ankle clonus, Truncal at... |
ORPHA:284289 |
Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxia |
ORPHA:101112 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations |
OMIM:159950 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity |
OMIM:615386 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Fasciculations, Distal sensory impairment |
OMIM:137200 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... |
ORPHA:420492 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait |
OMIM:619405 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Progressive cerebellar ataxia |
OMIM:618412 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... |
OMIM:183090 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Fasciculations, Distal sensory impairment, Steppage gait |
OMIM:606595 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... |
ORPHA:2590 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Spinocerebellar Ataxia 4 |
|
Limb dysmetria, Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment |
OMIM:600223 |
Dystonia 16 |
|
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... |
OMIM:612067 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:139485 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... |
ORPHA:352403 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Head titubation, Spastic parapl... |
OMIM:615491 |
Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis |
OMIM:615338 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... |
ORPHA:97355 |
Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Oculomotor apraxia |
OMIM:615217 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Dysmetria, Limb ataxia, Intention tremor, Dysdiadochokinesi... |
OMIM:117360 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations, Tetraplegia |
OMIM:604484 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait |
ORPHA:284271 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
Spinocerebellar Ataxia 5 |
|
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... |
OMIM:600224 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks |
OMIM:254770 |
Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait |
OMIM:182920 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... |
ORPHA:401866 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Spinal Muscular Atrophy, Type Ii |
|
Tongue fasciculations, Hand tremor |
OMIM:253550 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Thyrocerebrorenal Syndrome |
|
Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech |
ORPHA:3327 |
Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, Tremor, Athetosis |
OMIM:617106 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Distal sensory impairment, Impaired distal vibration sensation, Fasciculations, Ste... |
OMIM:614436 |
Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia |
OMIM:606438 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia |
OMIM:261640 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:614251 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Chorea, Frequent falls, Gait ... |
ORPHA:251347 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia, Intention tremor, Dysdiadochokine... |
ORPHA:504476 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Spinocerebellar Ataxia 42 |
|
Ataxia, Impaired vibration sensation at ankles, Babinski sign, Abnormal pyramidal sign, Tremor, U... |
OMIM:616795 |
Spinocerebellar Ataxia 36 |
|
Hypertonia, Ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Fasciculations, Gait ataxia, Inco... |
OMIM:614153 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Acroparesthesia, Limb myoclonus, Gait ataxia, Paresthesia, Dysesthesia, Abnormality of extrapyram... |
ORPHA:356 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... |
OMIM:619911 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Distal sensory impairment |
OMIM:616668 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Abnormality of extrapyramidal motor function, Myoclonus, Abnormal pyramidal sign, Hem... |
ORPHA:352596 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Slurred speech, Myoclonus |
OMIM:274240 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Nystagmus, Hereditary Vertical |
|
Ataxia, Abnormal vestibulo-ocular reflex |
OMIM:164150 |
Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
Spinocerebellar ataxia 27 |
|
Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Gait ataxia, Post... |
OMIM:609307 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination |
OMIM:614947 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:99014 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... |
OMIM:614831 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Falls |
ORPHA:139426 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Gait... |
ORPHA:98759 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Developmental And Epileptic Encephalopathy 27 |
|
Dystonia, Myoclonus, Spasticity, Chorea |
OMIM:616139 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, Incoordination, Gait ataxia... |
OMIM:616204 |
Spinocerebellar Ataxia 26 |
|
Incoordination, Gait ataxia, Truncal ataxia, Limb ataxia |
OMIM:609306 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Myoclonus, Choreoathetosis, Spasticity |
OMIM:617065 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... |
ORPHA:240085 |
Dystonia 9 |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia |
OMIM:600795 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Dysdiadochokinesis |
OMIM:618356 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis |
ORPHA:391417 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... |
OMIM:221900 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia |
ORPHA:208513 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... |
ORPHA:3095 |
Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... |
ORPHA:561854 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... |
ORPHA:313772 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Action tremor, Distal sensory impairment, Gait ataxia |
OMIM:180800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Limb tremor, Hypertonia, Myoclonus |
OMIM:300699 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Spastic tetraplegia, Myoclonus |
OMIM:619971 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... |
ORPHA:98755 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Myoclonus, Ataxia, Dystonia, Dysmetria |
OMIM:250620 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:619279 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination |
OMIM:608768 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Truncal ataxia, Myoclonus, Episodic ataxia |
OMIM:607682 |
Oromandibular Dystonia |
|
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Hyperkinetic movements, Limb dy... |
ORPHA:93958 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
Joubert Syndrome 33 |
|
Oculomotor apraxia, Ataxia |
OMIM:617767 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus, Unsteady gait |
OMIM:610090 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... |
ORPHA:90117 |
Optic Atrophy 11 |
|
Ataxia, Hyperkinetic movements, Dysmetria |
OMIM:617302 |
Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia |
OMIM:617120 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy |
OMIM:619470 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal pyramidal sign, Fasciculations, Babinski sign, Spasticity |
OMIM:602099 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Progressive truncal ataxia, Chin myoclonus |
ORPHA:263516 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... |
ORPHA:101077 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
Early-Onset Lafora Body Disease |
|
Spastic tetraparesis, Ataxia, Myoclonus |
ORPHA:324290 |
Hereditary Hyperekplexia |
|
Hypertonia, Ataxia, Myoclonus, Rigidity, Gait disturbance, Spasticity, Fasciculations |
ORPHA:3197 |
Alzheimer Disease 3 |
|
Abnormality of extrapyramidal motor function, Myoclonus, Babinski sign, Apraxia, Gait disturbance... |
OMIM:607822 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... |
ORPHA:352649 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis |
OMIM:613195 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... |
OMIM:603516 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Inability to walk, Hyperkinetic movements, Athetosis, Spasticity, Loss of ability to walk in earl... |
OMIM:612073 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... |
ORPHA:96 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Tongue fasciculations, Fasciculations |
OMIM:607596 |
Congenital Disorder Of Glycosylation, Type In |
|
Ataxia, Spasticity, Myoclonus |
OMIM:612015 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation |
OMIM:619092 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus |
ORPHA:324708 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity |
ORPHA:33445 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria |
OMIM:618251 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... |
OMIM:302800 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Dysto... |
ORPHA:280219 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus |
ORPHA:166063 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Steppage gait |
OMIM:609260 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia |
ORPHA:1170 |
Machado-Joseph Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, A... |
OMIM:109150 |
Amyotrophic Lateral Sclerosis 1 |
|
Fasciculations, Pseudobulbar paralysis, Spasticity |
OMIM:105400 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements |
OMIM:618374 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Dystonia |
OMIM:617557 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... |
OMIM:208920 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria |
OMIM:610185 |
X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... |
ORPHA:93952 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Inability to walk, Opisthotonus, Parkinsonism, Apraxia, Choreoathetosis, Spasticity, Spastic tetr... |
OMIM:619653 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity |
OMIM:614307 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea |
OMIM:610202 |
Epilepsy, Progressive Myoclonic, 10 |
|
Ataxia, Progressive cerebellar ataxia, Myoclonus, Spasticity, Spastic tetraplegia, Spastic ataxia |
OMIM:616640 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Spasticity |
|