UPB1

beta-ureidopropionase 1
OMIM: 606673
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
Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism), Beta-ureidopropionase deficiency 613161