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Metadata
ID	DOID:0060271
Name	pontocerebellar hypoplasia type 2E
Definition	A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. https://www.omim.org/entry/615851
Xrefs	OMIM:615851
Parent Relationships	is_a pontocerebellar hypoplasia type 2 is_a autosomal recessive disease