The association between RPS6KA3 (Ribosomal Protein S6 Kinase A3) and Intellectual Developmental Disorder, X-Linked 19 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.
Sources4
Clinical variants227
Symptoms25
Compounds0
Trials0
Publications19
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
