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Metadata
ID	DOID:0112333
Name	pontocerebellar hypoplasia type 16
Definition	A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. https://pubmed.ncbi.nlm.nih.gov/33168985/, https://pubmed.ncbi.nlm.nih.gov/33257696/
Xrefs	MIM:619527
Synonyms	PCH16 [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia is_a autosomal recessive disease