NNT

nicotinamide nucleotide transhydrogenase
OMIM: 607878
PanelMode of inheritanceDetails
2 panels
R-numbers: R150
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia, Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736
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
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736