Cerebellar Degeneration-Related Autoantigen 3 |
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Abnormal cerebellum morphology |
OMIM:602197 |
Spinocerebellar Atrophy With Pupillary Paralysis |
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Spinocerebellar atrophy |
OMIM:183100 |
Spinocerebellar Ataxia 45 |
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Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
Spinocerebellar Ataxia Type 30 |
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Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia 41 |
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Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 41 |
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Cerebellar vermis atrophy |
ORPHA:458798 |
Cerebellar Ataxia And Albinism |
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Ataxia, Head tremor, Olivopontocerebellar atrophy |
OMIM:258300 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Autosomal Spastic Paraplegia Type 30 |
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Ataxia, Diffuse cerebellar atrophy, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
Cerebellar Ataxia, Cayman Type |
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Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypoplasia, Trun... |
ORPHA:94122 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spinocerebellar Ataxia Type 15/16 |
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Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Spinocerebellar Ataxia 38 |
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Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
Spinocerebellar Ataxia 37 |
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Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
Spinocerebellar Ataxia 43 |
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Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
Spinocerebellar Ataxia 11 |
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Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
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Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia 31 |
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Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
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Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia |
OMIM:617133 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
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Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... |
OMIM:619742 |
Spinocerebellar Ataxia 30 |
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Ataxia, Cerebellar atrophy |
OMIM:613371 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
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Inability to walk, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
Spinocerebellar Ataxia 35 |
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Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Lichtenstein-Knorr Syndrome |
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Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
Spinocerebellar Ataxia Type 35 |
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Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
Dystonia With Cerebellar Atrophy |
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Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia |
OMIM:611694 |
Spinocerebellar Ataxia 40 |
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Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
OMIM:616053 |
Spinocerebellar Ataxia Type 40 |
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Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
ORPHA:423275 |
Epilepsy, Progressive Myoclonic 7 |
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Tremor, Ataxia, Myoclonus, Cerebellar atrophy |
OMIM:616187 |
Spinocerebellar Ataxia Type 37 |
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Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
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Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
Epilepsy, Progressive Myoclonic, 11 |
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Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy |
OMIM:618876 |
Spinocerebellar Ataxia 46 |
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Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:608029 |
Dentatorubral-Pallidoluysian Atrophy |
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Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
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Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:614322 |
X-Linked Non Progressive Cerebellar Ataxia |
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Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Ce... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
Dandy-Walker Syndrome |
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Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Agenesis of cerebellar vermis, Partial a... |
OMIM:220200 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
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Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615705 |
Spinocerebellar Ataxia, X-Linked 1 |
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Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
Spinocerebellar Ataxia Type 12 |
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Ataxia, Action tremor, Abnormal cerebellum morphology, Poor fine motor coordination, Bradykinesia... |
ORPHA:98762 |
Spastic Paraplegia 30, Autosomal Dominant |
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Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, C... |
OMIM:616127 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
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Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Abn... |
OMIM:615362 |
Spinocerebellar Ataxia 23 |
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Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... |
OMIM:610245 |
Spinocerebellar Ataxia 18 |
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Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia, Cerebellar atrophy |
OMIM:607458 |
Spastic Ataxia 2, Autosomal Recessive |
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Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Spinocerebellar Ataxia Type 20 |
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Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Spinocerebellar Ataxia 19 |
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Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
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Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
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Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Spinocerebellar Ataxia Type 26 |
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Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... |
ORPHA:101112 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
Ataxia-Oculomotor Apraxia 3 |
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Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
Ataxia-Oculomotor Apraxia 4 |
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Ataxia, Cerebellar atrophy, Oculomotor apraxia, Dystonia, Tetraplegia |
OMIM:616267 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
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Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... |
OMIM:619054 |
Behr Syndrome |
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Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity, Cerebellar at... |
OMIM:210000 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
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Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
Spinocerebellar Ataxia 4 |
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Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... |
OMIM:600223 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Ataxia, Abnormal cerebellum morphology, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... |
OMIM:618317 |
Spinocerebellar Ataxia 44 |
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Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:617691 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
Neurodegeneration With Brain Iron Accumulation 7 |
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Loss of ambulation, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy |
OMIM:617916 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
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Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:610743 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... |
OMIM:117360 |
Spinocerebellar Ataxia 26 |
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Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination |
OMIM:609306 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
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Clumsiness, Dysmetria, Intention tremor, Nonprogressive cerebellar ataxia, Babinski sign, Truncal... |
ORPHA:453521 |
Spinocerebellar Ataxia 49 |
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Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... |
OMIM:619806 |
Juvenile Huntington Disease |
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Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
Leukodystrophy, Hypomyelinating, 11 |
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Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy |
OMIM:616494 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy |
OMIM:256731 |
Spinocerebellar Ataxia 48 |
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Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
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Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Spinocerebellar Ataxia Type 29 |
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Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... |
ORPHA:208513 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
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Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... |
ORPHA:352403 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
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Ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:614229 |
Spinocerebellar Ataxia 5 |
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Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... |
OMIM:600224 |
Spinocerebellar Ataxia Type 19/22 |
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Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
Spinocerebellar Ataxia Type 17 |
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Torticollis, Ataxia, Blepharospasm, Cerebellar Purkinje layer atrophy, Abnormal pyramidal sign, P... |
ORPHA:98759 |
Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Impaired vibration sensation at ankles, Ataxia, ... |
OMIM:616795 |
Spinocerebellar ataxia 27 |
|
Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Gait ataxia, Cere... |
OMIM:609307 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Spastic Paraplegia 39, Autosomal Recessive |
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Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia, Cerebellar atrophy |
OMIM:612020 |
Spastic Ataxia 5, Autosomal Recessive |
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Ataxia, Spastic ataxia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Spasticity... |
OMIM:614487 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... |
OMIM:133190 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... |
ORPHA:98773 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Hypop... |
ORPHA:98760 |
Spinocerebellar Ataxia 32 |
|
Ataxia, Cerebellar atrophy |
OMIM:613909 |
Ataxia With Vitamin E Deficiency |
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Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... |
OMIM:277460 |
Spinocerebellar Ataxia 6 |
|
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:183086 |