Professionals

Clinical features
KDM2B-associated neurodevelopmental disorder (NDD) is a multisystem disorder characterized by developmental delay, behavioral difficulties, for example ADHD or autism, and congenital abnormalities of the heart, kidneys and eyes. Not all individuals have all of these features.

Prevalence
This disorder has only recently been described and its prevalence is unknown. It is considered a rare disorder. 21 individuals with a pathogenic variant have been reported. We are working on an expanded cohort and therefore welcome the addition of newly identified cases.

Inheritance
KDM2B-associated NDD is caused by heterozygous pathogenic variants in the KDM2B gene. These variants can occur de novo in the proband, or are inherited from an affected or unaffected parent. The inheritance pattern is autosomal dominant. The penetrance of this disorder appears to be reduced; one affected female proband with a complete heterozygous deletion inherited from her unaffected father has been described.