The association between CC2D1A (Coiled-Coil And C2 Domain Containing 1A) and Autosomal Recessive Non-Syndromic Intellectual Disability 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 variants1
Symptoms0
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.