Management

Currently, there is no known cure for KDM2B-associated NDD. Treatment of the manifestations, symptom management, and supportive care are recommended and can be managed by the appropriate specialty.

Be aware of potential congenital abnormalities and consider an echocardiogram, renal ultrasound and ophthalmological examination at the time of diagnosis.

The family should be referred to a clinical geneticist for genetic counselling.