Human genes for giant axonal neuropathy 2
Giant axonal neuropathy 2 [DOID:0090069]
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.
Synonyms: giant axonal neuropathy 2, DOID:0090069