Giant axonal neuropathy 2

Definition

Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.

Also known as autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, CMT2 with giant axons, DCAF8 giant axonal neuropathy, giant axonal neuropathy caused by mutation in DCAF8, giant axonal neuropathy type 2, HMSN2 with giant axons — per MONDO

Also identified as

• DOID 0090069 per MONDO
• OMIM 610100 per MONDO
• Orphanet 401964 per MONDO
• UMLS C1864695 per MONDO