Term Name:	giant axonal neuropathy 2
Synonyms:
Definition:	An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.
Ontology:	Human Disease [DOID:0090069]   ( DOID:0090069 )