autosomal recessive spinocerebellar ataxia 18

Term ID

DOID:0080042

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. https://www.ncbi.nlm.nih.gov/pubmed/24078737

References

• MIM:616204

Ontology

Human Disease   ( DOID:0080042 )