Autozomálně recesivní
Caused by changes in both copies of the SMG8 gene, part of the nonsense-mediated decay pathway that clears faulty messenger RNA from cells. Four reported families were consanguineous, and at least one was not.
Příznaky a projevy
Global developmental delay and intellectual disability, with distinctive facial features. Some have small head size (microcephaly). Eye malformations such as cataracts and congenital heart malformations have also been reported.
Co se diagnózou změní
Developmental, educational and therapy support, with eye, heart and growth assessment guided by the features present. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Analyzované geny
