NAGS

N-acetylglutamate synthase
OMIM: 608300
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310
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
N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias), N-acetylglutamate synthase deficiency