Autoszomális domináns
Caused by changes in one copy of TANC2 that usually stop it from working (loss of function). TANC2 is a scaffold protein at synapses. Changes often arise de novo but can be inherited from a mildly affected parent.
Tünetek és jelek
Developmental delay with speech and language delay and intellectual disability of variable severity. Autism is seen in children. Adults and carrier parents may have psychiatric or behavioural problems. Less often there are seizures or subtle facial features.
Mit változtat a diagnózis
Developmental, speech and educational support with behavioural assessment; seizures are treated when they occur. Genetic counselling and parental testing guide recurrence risk because the change may be inherited.
Vizsgált gének
Más néven
IDDALDS; INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
