A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include ...
Comprehensive, easy-to-understand information about this condition
How we create this content →Report Generation Failed
We couldn't automatically generate the report. This may be due to temporary service issues.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.