Autoszomális recesszív
Caused by loss of function of both copies of TRAPPC9, a gene involved in transport within cells. Some reported families are consanguineous.
Tünetek és jelek
Intellectual disability with marked speech delay, a small head size (microcephaly) and obesity are common. Brain MRI can show structural abnormalities, such as cerebral and cerebellar hypoplasia, and there may be dysmorphic facial features. Behavioural differences, such as outbursts, have also been reported.
Mit változtat a diagnózis
Developmental, speech and educational support, with attention to weight and diet and treatment of seizures if present. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
autosomal recessive intellectual disability due to TRAPPC9 deficiency
