What’s more, the SOX11 variant is implicated in Coffin-Siris syndrome, a condition traditionally marked by developmental or cognitive delays, phalangeal hypoplasia, distinctive facial features, hypotonia, autistic traits, hirsutism/hypertrichosis, sparse scalp hair and various systemic abnormalities affecting the cardiac, gastrointestinal and urinary systems [19, 20]. This evidence concerns the gene SOX11 and Coffin-Siris syndrome.