signal transducer and activator of transcription 5B
OMIM: 604260
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Growth hormone insensitivity with immunodeficiency 245590, T-B+ SCID, Combined immunodeficiency, Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity, Combined immunodeficiencies with associated or syndromic features