This website provides information on patients with mutations in the CNTNAP1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the CNTNAP1 gene is a multisystem disorder characterized by polyhydramnios, severe neonatal hypotonia, arthrogryposis, facial diplegia, as well as severe motor paralysis, leading to death in early infancy. There is a wide phenotypic spectrum and survival up to early childhood has been reported.
Not all individuals with a mutation in the CNTNAP1 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 CNTNAP1 gene.
Andre Megarbane, MD, PhD, Lebanese American University, Beirut, Lebanon, firstname.lastname@example.org