Term Name:	pontocerebellar hypoplasia type 12
Synonyms:	COASY-related pontocerebellar hypoplasia, PCH12
Definition:	A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2.
Ontology:	Human Disease [DOID:0112327]   ( DOID:0112327 )