. _:vb50946511 . _:vb50946511 . _:vb50946511 . _:vb50946511 . "DOID:0112330"^^ . "OMIM:619303"^^ . "pontocerebellar hypoplasia type 1E"^^ . "PCH1E"^^ . "disease_ontology"^^ . "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within a weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A46 on chromosome 5q22.1."^^ . _:vb50946511 . . . .