Autoszomális recesszív
Caused by loss-of-function changes in both copies of GTPBP2, which encodes a GTP-binding protein involved in ribosome-associated quality control. About 27 individuals have been reported in the literature.
Tünetek és jelek
Developmental delay and intellectual disability, with a speech disorder, low muscle tone and movement disorders. Visual impairment is common, and brain MRI findings vary. Microcephaly and epilepsy are also reported.
Mit változtat a diagnózis
Developmental, educational and therapy support with eye and neurological follow-up. Both parents of an affected child are usually carriers, and genetic counselling and carrier testing of relatives are available.
Vizsgált gének
Más néven
JABELS
