Term Name: autosomal recessive spinocerebellar ataxia 18
Synonyms: SCAR18
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.
Ontology: Human Disease [DOID:0080042]   ( DOID:0080042 )

Relationships
is a type of: autosomal recessive cerebellar ataxia