This website provides information on patients with mutations in the COG7 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the COG7 gene is a multisystem disorder characterized by congenital and progressive microcephaly, facial dysmorphism, adducted thumbs, wrinkled skin/abnormal subcutaneous fat distribution, feeding problems/failure to thrive, episodes of hyperthermia, growth deficiency, hypotonia, cardiac involvement and lethality in the first year.
Not all individuals with a pathogenic variant in the COG7 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 for patients with variants in the COG7 gene.
Jaak Jaeken, MD, PhD, KU Leuven, Leuven, Belgium, firstname.lastname@example.org
Dulce Quelhas, PharmD/Master in Human Genetics, Reference Center for Inborn Errors of Metabolism, Centro Hospitalar Universitário do Porto, Porto, Portugal, email@example.com