Term Name:	pontocerebellar hypoplasia type 16
Synonyms:	PCH16
Definition:	A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.
Ontology:	Human Disease [DOID:0112333]   ( DOID:0112333 )