This website provides information on patients with variants in the GPSM2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by variants in the GPSM2 gene is a multisystem disorder characterized by early-onset profound sensorineural hearing loss and brain anomalies.
Not all individuals with a variant in the GPSM2 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 variants in the GPSM2 gene.
Mustafa Tekin, MD, University of Miami Miller School of Medicine, Miami, FL, USA, MTekin@med.miami.edu
Carson Smith, MS, CGC, University of Miami Miller School of Medicine, Miami, FL, USA, Carsonsmith@med.miami.edu