Families

Mutations (changes) in the ARFGEF1 gene can cause a condition that mainly affects brain development. Children with this condition may experience delays in reaching milestones, such as talking or walking, and can have learning difficulties ranging from mild to more severe. Some children may also have seizures (epilepsy) and differences in their behavior, such as being more active, anxious, or having trouble with social interactions.

So far, fewer than 20 people with this gene change have been described in medical literature, so the condition is considered rare. It usually happens because one copy of the gene doesn’t work properly, and this is enough to cause symptoms. In some families, the gene change may be inherited, sometimes from a parent who shows few or no symptoms.