This website provides information on patients with pathogenic variants in KICS2, including clinical data, molecular data, management and research options.

The KICS2-associated syndrome is a multisystem disorder characterized by:
•    Intellectual disability
•    Epilepsy
•    Muscular hypotonia
•    Hearing loss (in some individuals)

Not all individuals with a mutation in KICS2 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 individuals with mutations in KICS2.

Rebecca Buchert, PhD, Institute of Medical genetics and Applied Genomics Tübingen, Tübingen, Germany, Rebecca.Buchert@med.uni-tuebingen.de
Tobias B. Haack, MD, Institute of Medical genetics and Applied Genomics Tübingen, Tübingen, Germany, Tobias.Haack@med.uni-tuebingen.de