Families

Affected individuals with a KDM2B-associated NDD usually have a delayed development in early childhood. Speech is usually more affected than motor development. Later in life, learning difficulties or intellectual disability can be present. Some children are born with a congenital abnormality, most frequent of the heart, the kidneys or the eyes.

KDM2B-associated NDD is caused by a variant in a gene called KDM2B. Sometimes this variant was inherited from the father or mother, but in many children the variant occurred spontaneously and was not inherited, this is called a de novovariant.

KDM2B-associated NDD is considered a rare disorder, its true prevalence is yet unknown.