Problems that are frequently present in persons with mutations in the ZBTB18 gene are:
• Intellectual disability (so far, each person with a ZBTB18 mutation that was described in literature has had an intellectual disability)
• Developmental delay (mostly both motor and speech development are delayed, in one person motor development was normal, but speech development was delayed).
• Absence or hypoplasia of the corpus callosum (a thick nerve bundle connecting both sides of the brain) in approximately two third of patients.
Problems that occur in some persons are:
• Seizures/epilepsy
• Behavioral problems, such as ADHD and autism spectrum disorders
The frequency of congenital abnormalities (such as heart defects or urinary tract abnormalities) does not appear to be higher in persons with a ZBTB18 mutation compared to the general population.
ZBTB18