The association between FGD1 (FYVE, RhoGEF And PH Domain Containing 1) and Aarskog Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.
Sources2
Clinical variants77
Symptoms0
Compounds0
Trials0
Publications21
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.