Version: 8.0.0
Date: Tue Jan 28 2025
giant axonal neuropathy 1
DOID:0090068
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

giant axonal neuropathy 1

Definition
An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.
Synonyms
None
Cross References
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