Autoszomális domináns
Caused by changes in one copy of ARFGEF1, a gene involved in vesicle trafficking and nerve fibre growth, which reduce the amount of working protein. Variants can arise de novo or be inherited from a parent who may be mildly affected.
Tünetek és jelek
Developmental delay and intellectual disability are typical. Behavioural problems are common, and epilepsy has occurred in almost half of people.
Mit változtat a diagnózis
Developmental and educational support, with behavioural care and seizure treatment when needed. Because changes can be inherited from mildly affected parents, genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
