This website provides information on patients with mutations in the THOC6 (THO Complex Subunit 6) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the THOC6 gene is a multisystem disorder characterized by moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features, microcephaly, teeth anomalies, cardiac anomalies, prenatal ventriculomegaly and hydrocephalus, cryptorchidism in males, and renal malformations. The following names are used to refer to this condition: THOC6 intellectual disability syndrome, Beaulieu-Boycott-Innes syndrome or THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.
Not all individuals with a mutation in the THOC6 gene have the above listed features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the THOC6 gene.

Gabrielle Lemire, MD, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottowa, Canada, glemire@cheo.on.ca

Valeria Capra, MD, IRCCS Istituto G.Gaslini, Genova, Italy, valeriacapra@gaslini.org