This website provides information on patients with mutations in the FRMD5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FRMD5 gene is a neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA, OMIM#620094).

Not all individuals with a mutation in the FRMD5 gene have these features. The NEDEMA is caused by rare heterozygous mutation in the FRMD5 gene.

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 FRMD5 gene.

Shenzhao Lu, PhD, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States, shenzhao.lu@bcm.edu
Hugo J. Bellen, DVM, PhD, Departments of Molecular and Human Genetics and Neuroscience, Baylor College of Medicine, Houston, United States, hbellen@bcm.edu
Yuwei Dai, MMS, Xiangya Hospital, Central South University, Changsha, China, daiyuwei_1996@163.com