The association between JAM3 (Junctional Adhesion Molecule 3) and Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.
Sources3
Clinical variants18
Symptoms2
Compounds0
Trials0
Publications2
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.