Term Name:	pontocerebellar hypoplasia type 1D
Synonyms:	PCH1D
Definition:	A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27.
Ontology:	Human Disease [DOID:0112323]   ( DOID:0112323 )