NKX2-2

PanelMode of inheritanceDetails
1 panel
R-numbers: R143
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal diabetes mellitus, MONDO:0016391, Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment