NEUROG3

PanelMode of inheritanceDetails
1 panel
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Permanent neonatal diabetes and enteric anendocrinosis, congenital malabsorptive diarrhea and neonatal diabetes, Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)