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Metadata
ID	DOID:0060277
Name	pontocerebellar hypoplasia type 8
Definition	A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. https://pubmed.ncbi.nlm.nih.gov/23023333/
Xrefs	ICD10CM:Q04.3 MIM:614961 ORDO:324569
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia