Term Name:	pontocerebellar hypoplasia type 14
Synonyms:	PCH14
Definition:	A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2.
Ontology:	Human Disease [DOID:0112325]   ( DOID:0112325 )