GINS1

GINS complex subunit 1
OMIM: 610608
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GINS1 deficiency, intrauterine growth retardation, chronic neutropenia, NK cell deficiency, Immunodeficiency 55, 617827, Neutropenia, IUGR, NK cells very low, Combined immunodeficiencies with associated or syndromic features