Mono-allelic KDM5B variants are associated with developmental delay, impaired intellectual abilities, behavioral abnormalities, autistic traits, sleep disorders, facial dysmorphisms, and overgrowth. Missense variants are associated with skin and renal anomalies. Thus far, 25 individuals with mono-allelic variants have been described in the literature, compared to 10 individuals with bi-allelic variants.
KDM5B dominant