Term Name:	pontocerebellar hypoplasia type 11
Synonyms:	PCH11
Definition:	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 the TBC1D23 gene on chromosome 3q12.1-q12.2.
Ontology:	Human Disease [DOID:0112324]   ( DOID:0112324 )