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Metadata
ID	DOID:0112331
Name	pontocerebellar hypoplasia type 1F
Definition	A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. https://pubmed.ncbi.nlm.nih.gov/33463720/
Xrefs	MIM:619304
Synonyms	PCH1F [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia type 1 is_a autosomal recessive disease