Term Name:	pontocerebellar hypoplasia type 2E
Synonyms:
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.
Ontology:	Human Disease [DOID:0060271]   ( DOID:0060271 )