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giant axonal neuropathy 2 | RareConnect | RareConnect.io

/giant axonal neuropathy

/Charcot-Marie-Tooth disease type 2

/giant axonal neuropathy 2

giant axonal neuropathy 2

Rare Disease

MONDO:0012411

Also Known As

CMT2 with giant axonsDCAF8 giant axonal neuropathyHMSN2 with giant axonsautosomal dominant hereditary motor and sensory neuropathy type 2 with giant axonsgiant axonal neuropathy caused by mutation in DCAF8giant axonal neuropathy type 2GAN2autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axonsgiant axonal neuropathy 2, autosomal dominant

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:610100 ↗

Orphanet

Orphanet:401964 ↗

GARD

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