pontocerebellar hypoplasia type 1E

Term ID

DOID:0112330

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. (2)

References

• OMIM:619303

Ontology

Human Disease   ( DOID:0112330 )