DPYS

dihydropyrimidinase
OMIM: 613326
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)