_:vb50946500 . _:vb50946500 . "pontocerebellar hypoplasia type 11"^^ . . "OMIM:617695"^^ . "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D23 on chromosome 3q12.1-q12.2."^^ . . _:vb50946500 . "PCH11"^^ . _:vb50946500 . _:vb50946500 . . "DOID:0112324"^^ . "ORDO:611247"^^ . "disease_ontology"^^ . .