Term Name:	pontocerebellar hypoplasia type 1E
Synonyms:	PCH1E
Definition:	A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.
Ontology:	Human Disease [DOID:0112330]   ( DOID:0112330 )