Term Name:	pontocerebellar hypoplasia type 13
Synonyms:	PCH13
Definition:	A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1.
Ontology:	Human Disease [DOID:0112332]   ( DOID:0112332 )