Welcome!
This website provides information on patients with mutations in the BHLHE22, , Basic Helix-Loop-Helix Family Member E22, gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the BHLHE22 gene is characterized by absent or limited speech, impaired motor and cognitive abilities, autistic traits, abnormal tone and movements, and agenesis of the corpus callosum on brain magnetic resonance imaging (MRI).
Not all individuals with a mutation in the BHLHE22 gene have these features.
This website was created to share and collect information about clinical management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BHLHE22 gene.
Emanuela Argilli, PhD, University of California, San Francisco, San Francisco, CA, USA, Emanuela.Argilli@ucsf.edu
Carolyn Le, BS, BA, University of California, San Francisco, San Francisco, CA, USA, Carolyn.Le@ucsf.edu
Elliott H. Sherr, MD, PhD, University of California, San Francisco, San Francisco, CA, USA, Elliott.Sherr@ucsf.edu