ZNF341

zinc finger protein 341
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections, OMIM:618282, Hyper-IgE syndrome, Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth, Combined immunodeficiencies with associated or syndromic features