This website provides information on patients with mutations in the EXOC6B (Exocyst complex component 6B) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the EXOC6B gene is mainly a skeletal system disorder characterized by:
•    Multiple joint dislocations
•    Severe joint laxity
•    Spine deformities
•    Gracile metacarpals and metatarsals
•    Poorly ossified carpal and tarsal bones
•    Delayed bone age
•    Short stature

Not all individuals with a mutation in the EXOC6B 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 mutations in the EXOC6B gene.

Katta Mohan Girisha, MD, DM Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Udupi, Karnataka, India, girish.katta@manipal.edu

Gandham SriLakshmi Bhavani, PhD, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India, gsl.bhavani@manipal.edu

Swati Singh, PhD, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India, swatisingh0730@gmail.com