Metadata | |
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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 | |
Synonyms |
SCAR18 [EXACT] |
Parent Relationships |