autosomal recessive spinocerebellar ataxia 13

Term ID

DOID:0080062

Synonyms

• SCAR13

Definition

An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. https://www.ncbi.nlm.nih.gov/pubmed/22901947

References

• OMIM:614831

Ontology

Human Disease   ( DOID:0080062 )