| Metadata | |
|---|---|
| ID | DOID:0090069 |
| Name | 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. https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy, https://www.ncbi.nlm.nih.gov/pubmed/24500646, https://www.omim.org/entry/610100 |
| Xrefs | |
| Parent Relationships |
is_a axonal neuropathy |