Giant Axonal Neuropathy
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http://purl.obolibrary.org/obo/NCIT_C84728
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 difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. [ ]
Term info
Label
Giant Axonal Neuropathy
Synonyms
- Giant Axonal Neuropathy
Preferred Name
Giant Axonal Neuropathy
Semantic Type
Disease or Syndrome
UMLS CUI
C1850386
code
C84728