Patients are usually males with a wide range of physical and mental disabilities. Some of these individuals may be severely disabled, while others may have milder symptoms. The most common features include developmental delay or intellectual disability, cerebellar signs (problems with balance and coordination), macrocephaly (abnormally large head), short stature, obesity, hypogonadotrophic hypogonadism (underdeveloped sex organs), dysmorphic features (abnormal facial features), aggressive outbursts, and seizures.
CUL4B