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Metadata
ID	DOID:0112330
Name	pontocerebellar hypoplasia type 1E
Definition	A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. https://pubmed.ncbi.nlm.nih.gov/26168012/, https://pubmed.ncbi.nlm.nih.gov/28653766/
Xrefs	MIM:619303
Synonyms	PCH1E [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia type 1 is_a autosomal recessive disease