Autoszomális domináns
Caused by a change in one copy of SYNCRIP, an RNA-binding protein involved in regulating multiple cell pathways. Frameshift changes probably cause loss of one working copy, and most cases arise de novo.
Tünetek és jelek
Developmental delay and intellectual disability, usually borderline to moderate. Autism, attention-deficit/hyperactivity disorder and sleep disturbances are common. Seizures, low muscle tone and movement disorders also occur.
Mit változtat a diagnózis
Developmental, speech, educational and behavioural support, with seizure treatment when needed. Most cases arise de novo, but genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
MONDO:0800456Források: [1][2]
