pontocerebellar hypoplasia type 1E (DOID:0112330)
Alliance: disease page
Synonyms: PCH1E
Alt IDs: OMIM:619303
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.