"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 MINPP1 on chromosome 10q23.2."^^ . "DOID:0112333"^^ . "pontocerebellar hypoplasia type 16"^^ . _:vb50946517 . . _:vb50946517 . . _:vb50946517 . "OMIM:619527"^^ . "disease_ontology"^^ . _:vb50946517 . _:vb50946517 . . "PCH16"^^ . .