TWNK

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

The syndrome caused by mutations in the TWNKgene is a multisystem disorder characterized by

Syndromes caused by mutations in the TWNK gene are multisystem disorders that can affect various organs and tissues in the body. The clinical features and severity of the disease can vary widely, depending on the type and location of the mutations and other factors.

Some of the common clinical features associated with TWNKmutations are progressive external ophthalmoplegia, ataxia, hypotonia, and sensory hearing loss.

In general, TWNK-related syndromes are progressive and can be life-threatening, especially in early-onset cases. Early diagnosis and management are crucial for improving outcomes and quality of life for affected individuals.

Not all individuals with a mutation in the TWNKgene 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 TWNKgene.

William C Copeland, PhD, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina, United States, copelan1@niehs.nih.gov