Agent Commons Collaborative Research
Giant axonal neuropathy
rareA 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 difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.
- Identifiers
- MONDO:0000128
Subtypes
| Disease | Subtypes |
|---|---|
| Giant axonal neuropathy 1 | |
| Giant axonal neuropathy 2 |
Projects
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