NLRP2

NLR family pyrin domain containing 2
OMIM: 609364
PanelMode of inheritanceDetails
1 panel
R-numbers: R417
Signed-off version 1.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475