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Metadata
ID	DOID:0112332
Name	pontocerebellar hypoplasia type 13
Definition	A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/31207318/
Xrefs	MIM:618606
Synonyms	PCH13 [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia is_a autosomal recessive disease