Common findings associated with mono-allelic KDM5B variants are developmental delay, impaired intellectual abilities, sleep disorders, facial dysmorphisms, and autistic traits, the latter being rare in individuals with bi-allelic variants. Developmental delay, autistic traits, and sleep disorders are particularly common in individuals with disruptive (nonsense, frameshift, and splicing) variants. Renal and skin anomalies are more associated with missense variants. Neurological signs can be present.
KDM5B dominant