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Metadata
ID DOID:0080042
Name autosomal recessive spinocerebellar ataxia 18
Definition An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.
https://www.ncbi.nlm.nih.gov/pubmed/24078737
Xrefs

OMIM:616204

Synonyms

SCAR18 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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