autosomal recessive spinocerebellar ataxia 30 (DOID:0070411)
Alliance: disease page
Synonyms: SCAR30
Alt IDs: OMIM:619405
Definition: An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15.