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Metadata
ID	DOID:0060271
Name	pontocerebellar hypoplasia type 2E
Definition	A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/24577744/, https://www.omim.org/entry/615851
Xrefs	MIM:615851
Parent Relationships	is_a pontocerebellar hypoplasia type 2 is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance