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Metadata
ID	DOID:0112325
Name	pontocerebellar hypoplasia type 14
Definition	A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. https://pubmed.ncbi.nlm.nih.gov/33220177/
Xrefs	MIM:619301
Synonyms	PCH14 [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia is_a autosomal recessive disease