The association between COL4A2 (Collagen Type IV Alpha 2 Chain) and Familial Porencephaly is well established and manually curated, drawing on a single expert-curated source, which records a causative germline mutation.
Sources1
Clinical variants9
Symptoms7
Compounds0
Trials0
Publications0
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.