Term Name:	giant axonal neuropathy 1
Synonyms:
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.
Ontology:	Human Disease [DOID:0090068]   ( DOID:0090068 )