Common findings associated with bi-allelic KDM5B variants are developmental delay, intellectual disability, facial dysmorphisms, finger anomalies, ophthalmologic problems, and overgrowth. Neurological signs, excessive joint flexibility, and/or heart problems can be present. Autistic traits, sleep disorders, and other behavioral abnormalities are rare in comparison with mono-allelic KDM5B variants. Renal and skin anomalies have been associated with mono-allelic KDM5B variants, but not with bi-allelic ones.
KDM5B recessive