This website provides information on patients with mutations in the LYRM7 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the LYRM7 gene is a multisystem disorder characterized by encephalopathy, metabolic crises, hypotonia, and stroke-like episodes.
Not all individuals with a mutation in the LYRM7 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 LYRM7 gene.
Hind Alsharhan, MD, Department of Pediatrics, College of Medicine, Kuwait University, Kuwait and Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Kuwait, hind.alsharhan@ku.edu.kw