Term Name:	autosomal recessive spinocerebellar ataxia 30
Synonyms:	SCAR30
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.
Ontology:	Human Disease [DOID:0070411]   ( DOID:0070411 )