MYSM1

Myb like, SWIRM and MPN domains 1
OMIM: 612176
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYSM1 deficiency, Bone marrow failure, neurodevelopmental delay, mid-face hypoplasia, immunodeficiency, Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay., Combined immunodeficiencies with associated or syndromic features