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Metadata
ID	DOID:0070411
Name	autosomal recessive spinocerebellar ataxia 30
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. https://pubmed.ncbi.nlm.nih.gov/29764912/
Xrefs	MIM:619405
Synonyms	SCAR30 [EXACT]
Parent Relationships	is_a autosomal recessive cerebellar ataxia