Version: 8.0.0
Date: Tue Jan 28 2025
pontocerebellar hypoplasia type 1E
DOID:0112330
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

pontocerebellar hypoplasia type 1E

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.
Synonyms
  • PCH1E
Cross References
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