This website provides information on patients with mutations in the NACC1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NACC1 gene is a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements.
Not all individuals with a mutation in the NACC1 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 NACC1 gene.
Vandana Shashi, MD, Duke University School of Medicine, Durham, North Carolina, USA, firstname.lastname@example.org
Michael Wangler, MD, Baylor College of Medicine, Houston, Texas, USA, email@example.com
Kelly Schoch, Genetic Counselor (MS), Duke University School of Medicine, Durham, North Carolina, USA, firstname.lastname@example.org