THOC6 intellectual disability syndrome is transmitted as an autosomal recessive disorder. The parents of an affected child are usually carriers.
Parental testing is recommended to confirm carrier status. Parents who are carriers are healthy, but present a 25% risk to have a affected child and 75% to have a healthy child at each pregnancy.
If only one parent is shown to be a carrier of a pathogenic variant, it is possible that the child is carrying a rarer type of genetic variant and this should be investigated.
Prenatal and preimplantation genetic testing are options for individuals who are carriers.
THOC6