Autozomálně recesivní
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.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
JABELS
