The association between TMCO1 (Transmembrane And Coiled-Coil Domains 1) and Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.
Sources4
Clinical variants13
Symptoms134
Compounds0
Trials0
Publications10
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
