The association between PUS3 (Pseudouridine Synthase 3) and Neurodevelopmental Disorder With Microcephaly And Gray Sclerae 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 a causative germline mutation.
Sources4
Clinical variants18
Symptoms67
Compounds0
Trials0
Publications6
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
