This website provides information on patients with mutations in the TAF2gene, including clinical data, molecular data, management and research options.
A mutation in the TAF2gene can cause a neurodevelopmental disorder (Intellectual developmental disorder, autosomal recessive 40).
The aim of this website is to collect information on patients with TAF2-related neurodevelopmental disorder and/or intellectual disability. Frequently identified features include global developmental delay, hypotonia, limited or absent speech, thin corpus callosum, microcephaly and spasticity.
Very few patients are reported currently. More patient data is needed to examine the phenotype of patients with an TAF2mutation in more detail and to identify the consequences of these mutations with a higher precision.
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 TAF2gene.
Boris Keren, MD, PhD, Genetic department, Pitié-Salpêtrière Hospital, Assistance Publique – Hôpitaux de Paris, Paris, France, boris.keren@aphp.fr
TAF2