This website provides information on patients with mutations in the TMTC3 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the TMTC3 gene is a multisystem disorder characterized by development delay, intellectual disability, poor or absent speech, seizures, muscular hypotonia, and cerebral malformations at MRI.
Not all individuals with a mutation in the TMTC3 gene have these 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 TMTC3 gene.
Andre Megarbane, MD, PhD, Lebanese American University, Beirut, Lebanon, email@example.com