FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive spinocerebellar ataxia 18 ID (Ontology) DOID:0080042 (Human Disease)
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.
Also Known As "SCAR18"
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 Genes
 autosomal recessive spinocerebellar ataxia 18      14
 for disease ribbon | autosomal recessive spinocerebellar ataxia 18      14
 model of | autosomal recessive spinocerebellar ataxia 18      14
Spanning Tree (Parents/Children)
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autosomal recessive disease__
cerebellar ataxia____________|
                             autosomal recessive cerebellar ataxia
                              |__autosomal recessive spinocerebellar ataxia 18  14 rec.
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Is a autosomal recessive cerebellar ataxia
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Synonyms
  • "SCAR18" EXACT OMO:0003012
Secondary IDs
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MIM:616204