pontocerebellar hypoplasia type 16 (DOID:0112333)
Alliance: disease page
Synonyms: PCH16
Alt IDs: OMIM:619527
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.