This website provides information about patients with CC2D1A (coiled-coil and C2 domain containing 1A) gene mutations including clinical data, molecular data, management and research options.

Autosomal recessive intellectual developmental disorder-3 (MRT3) is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). Mutations in this gene are linked to delayed psychomotor development in early childhood, moderate to severe non syndromic intellectual disability (NSID), autistic features or seizures.

This website was created to share and collect information on clinical, management and research projects to gather more knowledge and provide better treatment for patients with CC2D1A gene mutations.

Elif Funda Sener, PhD, Erciyes University Medical Faculty, Department of Medical Biology/ Erciyes University Genome and Stem Cell Center (GENKOK), Kayseri, Turkey, eliffunda@erciyes.edu.tr

Minoo Rassoulzadegan, PhD, Université Cote d'Azur (UCA), INSERM-CNRS, IRCAN, 06107 Nice, France , minoo.rassoulzadegan@univ-cotedazur.fr