FBXO11

This gene encodes an F-box protein that serves as a substrate recognition component of SCF E3 ubiquitin ligase complexes, targeting specific proteins like BCL6, DTL, and SNAI1 for ubiquitination and proteasomal degradation. Mutations cause intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variation (pLI >0.99), indicating that such variants are likely pathogenic when they occur.