This website provides information on patients with mutations in the CITgene, including clinical data, molecular data, management and research options.
The mutations in the CITgene cause severe neurological disorder called autosomal recessive primary microcephaly 17 (MCPH17). MCPH17 is characterized by small head circumference, delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum.
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 CITgene.
Sulman Basit, PhD, Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia, sbasit.phd@gmail.com