Term Name:	pontocerebellar hypoplasia type 1C
Synonyms:	PCH1C
Definition:	A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3.
Ontology:	Human Disease [DOID:0112334]   ( DOID:0112334 )