This website provides information on patients with mutations in the CC2D2A gene, including clinical data, molecular data, management and research options.

The Joubert Syndrome Type 9, caused by mutations in the CC2D2A gene is a multisystem disorder characterized by intellectual disability, developmental delay, speech impairment, poor vision, hypotonia, and molar tooth sign in brain MRI. Some of the patients have overlapping features of ciliopathies.

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 CC2D2A gene.

Musharraf Jelani, PhD, Rare Disease Genetics and Genomics, Centre for Omic Sciences, Islamia College Peshawar, Khyber Pakhtunkhwa, Pakistan, mjelani@icp.edu.pk

Muhammad Ismail Khan, PhD,  Department of Zoology, Islamia College Peshawar, Khyber Pakhtunkhwa, Pakistan, ismail_uop@yahoo.com