BRWD3

Clinical Characteristics

Features of BRWD3-related genetic disorder

Male individuals with a BRWD3-related disorder will have some degree of developmental delay/ intellectual disability, ranging from mild to moderate. The severity of learning difficulty can also vary within individuals with the same BRWD3 gene change, even within the same family.

Affected males with a BRWD3 gene change often have early motor delay and a significant delay in their early language development. Behavioural differences reported in some people include shyness and temper tantrums. Their physical size may be greater than their unaffected siblings for height, weight and particularly head circumference. In some instances pubertal maturation may be delayed.

Some adult males with BRWD3-related disorder have been described as having  distinctive facial features  but generally individuals do not look significantly different from other (unaffected) members of their family and we are not aware of a particularly increased chance of other medical conditions.

Most of these features become present by early childhood.

Females who carry a BRWD3 gene change have been reported to have normal intelligence.

This is a genetic condition and is not related to environmental exposures or events during pregnancy or in early infant life.