Term Name:	pontocerebellar hypoplasia type 1F
Synonyms:	PCH1F
Definition:	A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1.
Ontology:	Human Disease [DOID:0112331]   ( DOID:0112331 )