Affected boys have developmental delay so they may be slow to meet their milestones. They may go on to have difficulties with learning – these tend to be mild to moderate. In some cases seizures are observed. Some affected boys may have differences in their facial appearance, for example appearing course. Boys may have small genitalia (penis) and their testicles may not have dropped to the correct position. MRI scan of the brain may show some differences. Features may be different in different boys.
KLHL15