Version: 8.0.0
Date: Tue Jan 28 2025
giant axonal neuropathy 2
DOID:0090069
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

giant axonal neuropathy 2

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.
Synonyms
None
Cross References
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Sources of Associations

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