Bi-allelic KDM5B variants are associated with developmental delay, intellectual disability, facial dysmorphisms, finger anomalies, ophthalmologic problems, and overgrowth. Renal and skin anomalies have been associated with (missense) mono-allelic KDM5B variants, but not with bi-allelic ones. Thus far, 10 individuals with bi-allelic variants have been described in the literature, compared to 25 individuals with mono-allelic variants.
KDM5B recessive