Autoszomális recesszív
Caused by changes in both copies of RTTN, which encodes rotatin, a centrosomal protein. Each parent usually carries one changed copy.
Tünetek és jelek
Growth restriction before and after birth with short stature and a very small head. Intellectual disability and brain malformations such as polymicrogyria are common. Less often there are seizures or differences in other organs.
Mit változtat a diagnózis
Growth, feeding and developmental monitoring, brain imaging and seizure treatment when needed. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- bilateral generalized polymicrogyria
