Spinocerebellar Ataxia 41 |
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Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia |
OMIM:616410 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
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Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar... |
OMIM:615268 |
Spinocerebellar Ataxia Type 30 |
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Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Spinocerebellar Ataxia 45 |
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Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Autosomal Spastic Paraplegia Type 30 |
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Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... |
ORPHA:101010 |
Spinocerebellar Ataxia Type 41 |
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Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Cerebellar Ataxia, Cayman Type |
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Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... |
ORPHA:94122 |
Spinocerebellar Ataxia 43 |
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Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... |
OMIM:617018 |
Spinocerebellar Ataxia 37 |
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Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia 31 |
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Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia |
OMIM:117210 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
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Cerebellar atrophy, Ataxia, Inability to walk |
OMIM:619333 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia Type 15/16 |
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Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr... |
ORPHA:98769 |
Spinocerebellar Ataxia 30 |
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Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
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Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria |
OMIM:617584 |
Spinocerebellar Ataxia 40 |
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Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... |
OMIM:616053 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
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Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... |
OMIM:619742 |
Spinocerebellar Atrophy With Pupillary Paralysis |
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Spinocerebellar atrophy |
OMIM:183100 |
Spinocerebellar Ataxia 35 |
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Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Unsteady gait, Ataxi... |
OMIM:616948 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... |
ORPHA:95434 |
Ceroid Lipofuscinosis, Neuronal, 8 |
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Cerebral atrophy, Cerebellar atrophy, Loss of ambulation, Ataxia, Increased neuronal autofluoresc... |
OMIM:600143 |
Spinocerebellar Ataxia Type 35 |
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Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... |
ORPHA:276193 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... |
ORPHA:284332 |
Spinocerebellar Ataxia 11 |
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Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... |
OMIM:604432 |
Spinocerebellar Ataxia Type 40 |
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Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... |
ORPHA:423275 |
Spinocerebellar Ataxia 38 |
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Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai... |
OMIM:615957 |
Spinocerebellar Ataxia Type 37 |
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Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Gait dis... |
ORPHA:363710 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria |
OMIM:617917 |
Epilepsy, Progressive Myoclonic, 11 |
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Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus |
OMIM:618876 |
Lichtenstein-Knorr Syndrome |
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Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria |
OMIM:608029 |
Spinocerebellar Ataxia Type 12 |
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Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
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Unsteady gait, Cerebellar atrophy, Ataxia, Gait ataxia |
OMIM:615705 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... |
OMIM:615768 |
Spinocerebellar Ataxia 23 |
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Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst... |
OMIM:610245 |
X-Linked Non Progressive Cerebellar Ataxia |
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Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
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Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... |
OMIM:614322 |
Spastic Paraplegia 30, Autosomal Dominant |
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Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... |
OMIM:610357 |
Epilepsy, Progressive Myoclonic 7 |
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Cerebellar atrophy, Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dentatorubral-Pallidoluysian Atrophy |
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Atrophy of the dentate nucleus, Chorea, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis |
OMIM:125370 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
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Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... |
OMIM:615386 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
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Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait |
ORPHA:284271 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... |
OMIM:616127 |
Spinocerebellar Ataxia Type 26 |
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Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... |
ORPHA:101112 |
Spinocerebellar Ataxia 46 |
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Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria |
OMIM:617770 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Dysdiadochokinesis, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Ataxia, Loss of a... |
OMIM:256731 |
Spinocerebellar Ataxia 44 |
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Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria |
OMIM:617691 |
Spinocerebellar Ataxia 4 |
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Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... |
OMIM:600223 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Babinski sign, Oculomotor apraxia, Incoordination, Truncal ataxia, Dysdiadochokinesis, Cerebellar... |
OMIM:616204 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... |
ORPHA:284324 |
Spinocerebellar Ataxia Type 20 |
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Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... |
ORPHA:101110 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Limb ataxia, Incoordination, Spasticity, Tremor, Cerebellar vermis atrophy, Gait ataxia, Dilated ... |
OMIM:213200 |
Spastic Ataxia 2, Autosomal Recessive |
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Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... |
OMIM:611302 |
Spinocerebellar Ataxia 49 |
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Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... |
OMIM:619806 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
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Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Corpus ca... |
OMIM:618088 |
Spinocerebellar Ataxia 29 |
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Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Spinocerebellar Ataxia 26 |
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Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia |
OMIM:609306 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
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Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... |
OMIM:617633 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
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Limb ataxia, Truncal ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Gait disturbance, Ataxia |
OMIM:614229 |
Spinocerebellar Ataxia Type 29 |
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Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Intention ... |
ORPHA:208513 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
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Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Spinocerebellar Ataxia Type 17 |
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Cerebellar Purkinje layer atrophy, Torticollis, Chorea, Spasticity, Neuronal loss in central nerv... |
ORPHA:98759 |
Boucher-Neuhauser Syndrome |
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Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Spasticity, Cerebellar atrophy, ... |
OMIM:215470 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
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Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... |
ORPHA:352403 |
Spinocerebellar Ataxia 5 |
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Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Upper motor neuron dysfunction... |
OMIM:600224 |
Spastic Paraplegia 39, Autosomal Recessive |
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Babinski sign, Atrophy of the spinal cord, Cerebellar atrophy, Gait disturbance, Ataxia, Progress... |
OMIM:612020 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... |
OMIM:617145 |
Spinocerebellar Ataxia Type 19/22 |
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Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... |
ORPHA:98772 |
Spinocerebellar Ataxia 15 |
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Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor |
OMIM:606658 |
Joubert Syndrome 25 |
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Cerebellar hypoplasia, Ataxia, Oculomotor apraxia |
OMIM:616781 |
Spinocerebellar Ataxia 50 |
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Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... |
OMIM:620158 |
Spinocerebellar Ataxia 34 |
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Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor... |
OMIM:133190 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... |
OMIM:609270 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
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Amyotrophic lateral sclerosis |
OMIM:617921 |
Spastic Ataxia 3, Autosomal Recessive |
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Cerebellar vermis atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Cerebral cortical atrophy... |
OMIM:611390 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria |
OMIM:619405 |
Spinocerebellar Ataxia 6 |
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Progressive cerebellar ataxia, Incoordination, Truncal ataxia, Cerebellar atrophy, Frequent falls... |
OMIM:183086 |
Ataxia-Telangiectasia-Like Disorder 1 |
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Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque... |
OMIM:604391 |
Spinocerebellar Ataxia Type 8 |
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Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ... |
ORPHA:98760 |
Ataxia With Vitamin E Deficiency |
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Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis... |
OMIM:277460 |