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 41 |
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Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 30 |
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Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia Type 41 |
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Cerebellar vermis atrophy |
ORPHA:458798 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia 45 |
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Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Autosomal Spastic Paraplegia Type 30 |
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Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
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Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Spinocerebellar Ataxia Type 15/16 |
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Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Spinocerebellar Ataxia 37 |
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Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia 43 |
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Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Cerebellar Ataxia, Cayman Type |
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Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Spinocerebellar Ataxia 31 |
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Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Cerebellar Ataxia, Cayman Type |
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Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
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Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
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Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia 40 |
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Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
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Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Spinocerebellar Ataxia 30 |
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Cerebellar atrophy, Ataxia |
OMIM:613371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Spinocerebellar Ataxia 35 |
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Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Dystonia With Cerebellar Atrophy |
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Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia 11 |
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Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Spinocerebellar Ataxia Type 40 |
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Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Spinocerebellar Ataxia Type 37 |
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Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Epilepsy, Progressive Myoclonic, 11 |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
X-Linked Non Progressive Cerebellar Ataxia |
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Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Dentatorubral-Pallidoluysian Atrophy |
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Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Lichtenstein-Knorr Syndrome |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Spinocerebellar Ataxia 38 |
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Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Dandy-Walker Syndrome |
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Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
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Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Spinocerebellar Ataxia Type 12 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spinocerebellar Ataxia Type 35 |
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Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
Spastic Paraplegia 30, Autosomal Dominant |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Epilepsy, Progressive Myoclonic 7 |
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Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Spinocerebellar Ataxia Type 20 |
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Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
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Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Spinocerebellar Ataxia 12 |
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Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
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Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
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Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... |
OMIM:619054 |
Spinocerebellar Ataxia 46 |
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Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Spinocerebellar Ataxia 44 |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia 4 |
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Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Spinocerebellar Ataxia 48 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Spinocerebellar Ataxia 49 |
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Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia Type 26 |
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Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
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Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Spinocerebellar Ataxia 26 |
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Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Juvenile Huntington Disease |
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Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
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Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Leukodystrophy, Hypomyelinating, 11 |
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Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Spastic Ataxia 2, Autosomal Recessive |
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Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Spinocerebellar Ataxia Type 29 |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
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Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Spinocerebellar Ataxia 5 |
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Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
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Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Spinocerebellar Ataxia Type 17 |
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Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... |
ORPHA:98759 |
Spinocerebellar Ataxia 15 |
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Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spinocerebellar Ataxia Type 19/22 |
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Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Spinocerebellar Ataxia 50 |
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Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Joubert Syndrome 25 |
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Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Spastic Paraplegia 39, Autosomal Recessive |
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Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Spinocerebellar Ataxia 6 |
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Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys... |
OMIM:183086 |
Ataxia-Telangiectasia-Like Disorder 1 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Spastic Ataxia 3, Autosomal Recessive |
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Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... |
OMIM:611390 |
Spinocerebellar Ataxia 34 |
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Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Ataxia-Oculomotor Apraxia 4 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... |
OMIM:616267 |
Spinocerebellar Ataxia Type 8 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Ataxia With Vitamin E Deficiency |
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Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |