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Metadata
ID	DOID:0112326
Name	pontocerebellar hypoplasia type 15
Definition	A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/33220177/
Xrefs	MIM:619302
Synonyms	PCH15 [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia is_a autosomal recessive disease