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