Autoszomális domináns
Caused by loss-of-function changes in one copy of SON, a gene involved in RNA splicing. Almost all reported changes have arisen de novo.
Tünetek és jelek
Developmental delay and intellectual disability and facial differences are typical. Seizures and behavioural issues are reported in more than half of people. Brain malformations, eye problems, short stature, feeding difficulties and kidney or genital differences are common. Less often there are heart, gut, immune or hearing problems.
Mit változtat a diagnózis
Developmental, feeding and educational support, with eye, heart, kidney and growth review and seizure treatment if needed. Most cases arise de novo, but genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
TOKIMS; Tokita-Kim syndrome; ZTTK multiple congenital anomalies-mental retardation syndrome; ZTTKS
