Ataxia, Sensory, 1, Autosomal Dominant |
|
Sensory ataxia, Babinski sign, Positive Romberg sign, Gait instability, worse in the dark |
OMIM:608984 |
Neuropathy, Hereditary Sensory, Atypical |
|
Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Cerebellar atrophy, Slurred speech, Incoordination |
ORPHA:98766 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Abasia |
OMIM:209100 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617769 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait |
OMIM:605388 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Episodic ataxia |
OMIM:168885 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... |
ORPHA:98765 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity |
OMIM:607584 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Cerebellar ... |
ORPHA:94122 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... |
ORPHA:101010 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebellar atrophy, Truncal ataxia |
OMIM:615268 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Neuhauser-Eichner-Opitz Syndrome |
|
Ataxia, Hypertonia, Spasticity, Rigidity |
ORPHA:2672 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617133 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615957 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:117210 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Gait disturbance, Babinski sign, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology |
OMIM:618418 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Ataxia, Limb ataxia, Gait... |
OMIM:617018 |
Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... |
ORPHA:276193 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Limb ataxia, Difficulty walking, Truncal ataxia |
ORPHA:363432 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia |
OMIM:617770 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign |
ORPHA:85292 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615705 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Cerebellar hypoplasia, Spasticity, Uns... |
OMIM:615768 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia |
OMIM:618876 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Gait disturbance, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Ataxia, Hemiplegia/hemipa... |
ORPHA:2572 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... |
OMIM:617633 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Abnormal cerebellu... |
OMIM:162350 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus |
OMIM:125370 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... |
OMIM:610357 |
Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia |
OMIM:616267 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... |
OMIM:610245 |
Spinocerebellar Ataxia Type 26 |
|
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... |
ORPHA:101112 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... |
OMIM:611302 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia |
ORPHA:1178 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder |
OMIM:612736 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Ataxia, Apraxia |
ORPHA:85338 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
Behr Syndrome |
|
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Agenesis of cereb... |
OMIM:220200 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus, Cerebellar atrophy |
OMIM:600143 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... |
OMIM:607565 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady gait, Limb... |
OMIM:213200 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia |
OMIM:615217 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:617691 |
Chorea, Benign Hereditary |
|
Gait disturbance, Chorea |
OMIM:118700 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity |
OMIM:617916 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... |
OMIM:270500 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... |
OMIM:618317 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... |
OMIM:610246 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... |
ORPHA:1175 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... |
OMIM:616204 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ataxia, Cerebella... |
ORPHA:314603 |
Dystonia With Ringbinden |
|
Dystonia, Gait disturbance, Chorea |
OMIM:224550 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... |
ORPHA:98763 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:610743 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:618501 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Oculomotor apraxia, Inability to walk, Ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:618273 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... |
ORPHA:512260 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... |
ORPHA:98772 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia |
OMIM:614229 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis |
OMIM:256731 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... |
OMIM:616719 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
OMIM:609161 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... |
ORPHA:208513 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Ataxia, Progressive spastic paraplegia |
OMIM:612020 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradykinesia, Cerebellar vermis atroph... |
ORPHA:248111 |
Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia |
ORPHA:210128 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... |
OMIM:600224 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... |
ORPHA:98811 |
Spinocerebellar Ataxia 15 |
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Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
Spinocerebellar Ataxia Type 17 |
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Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... |
ORPHA:98759 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
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Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... |
OMIM:606183 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
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Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... |
ORPHA:352403 |
Spinocerebellar Ataxia 34 |
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Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... |
OMIM:133190 |
Spinocerebellar Ataxia 42 |
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Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
Epilepsy, Progressive Myoclonic, 12 |
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Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking |
OMIM:619191 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Steppage gait, Ataxia, Distal sensory impairment, Cerebellar atrophy |
OMIM:607250 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
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Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, In... |
ORPHA:98 |
Joubert Syndrome 25 |
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Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
Spastic Paraplegia 26, Autosomal Recessive |
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Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... |
OMIM:609195 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... |
ORPHA:53583 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia 17 |
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Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romb... |
OMIM:607136 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
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Athetosis, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Inability to walk |
OMIM:615159 |
Spinocerebellar Ataxia 27 |
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Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... |
OMIM:609307 |
Spinocerebellar Ataxia Type 27 |
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Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
Spinocerebellar Ataxia 48 |
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Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... |
OMIM:618093 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
Ataxia-Pancytopenia Syndrome |
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Babinski sign, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Impaired vibration sensa... |
OMIM:159550 |
Myoclonic-Atonic Epilepsy |
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Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia, Freezing ... |
ORPHA:240094 |
Null Syndrome |
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Ataxia, Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Progressive spas... |
ORPHA:280234 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
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Chorea, Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Corticobasal Syndrome |
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Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... |
OMIM:618598 |
Spinocerebellar Ataxia, X-Linked 4 |
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Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Encephalopathy, Recurrent, Of Childhood |
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Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
Spinocerebellar Ataxia Type 21 |
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Rigidity, Abnormality of extrapyramidal motor function, Tremor, Cerebellar vermis atrophy, Progre... |
ORPHA:98773 |
Spastic Ataxia 5, Autosomal Recessive |
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Dystonia, Cerebellar atrophy, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia, D... |
OMIM:614487 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
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Progressive cerebellar ataxia |
OMIM:618412 |
Spinocerebellar Ataxia Type 8 |
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Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,... |
ORPHA:98760 |
Boucher-Neuhauser Syndrome |
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Cerebellar atrophy, Spinocerebellar atrophy, Intention tremor, Ataxia, Spasticity, Gait ataxia, A... |
OMIM:215470 |
Familial Paroxysmal Ataxia |
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Dystonia, Torticollis, Cerebellar vermis atrophy, Ataxia, Hemiplegia |
ORPHA:97 |
Spinocerebellar Ataxia 32 |
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Ataxia, Cerebellar atrophy |
OMIM:613909 |
Autosomal Spastic Paraplegia Type 58 |
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Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... |
ORPHA:397946 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
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Cerebellar atrophy, Positive Romberg sign, Ataxia, Limb ataxia, Gait ataxia |
OMIM:614575 |
Ataxia-Telangiectasia-Like Disorder 1 |
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Dystonia, Cerebellar atrophy, Frequent falls, Chorea, Lower limb spasticity, Oculomotor apraxia, ... |
OMIM:604391 |
Pandas |
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Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Spinocerebellar Ataxia Type 36 |
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Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Loss of Purkinje cells in the cerebellar v... |
ORPHA:276198 |
Adult Polyglucosan Body Disease |
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Gait disturbance, Abnormality of extrapyramidal motor function, Hemiparesis, Distal sensory impai... |
ORPHA:206583 |
Gillespie Syndrome |
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Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
Joubert Syndrome 33 |
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Oculomotor apraxia, Ataxia |
OMIM:617767 |
Dentatorubral Pallidoluysian Atrophy |
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Impaired proprioception, Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... |
ORPHA:101 |
Joubert Syndrome 17 |
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Oculomotor apraxia, Cerebellar vermis hypoplasia, Ataxia |
OMIM:614615 |
Early-Onset Schizophrenia |
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Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotio... |
ORPHA:96369 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Neurotrophic Keratopathy |
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Allodynia, Anterior uveitis |
ORPHA:137596 |
Trigeminal Neuralgia |
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Allodynia |
ORPHA:221091 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia |
ORPHA:51890 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |