giant axonal neuropathy 2

Term ID

DOID:0090069

Synonyms

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. (3)

References

• OMIM:610100

Ontology

Human Disease   ( DOID:0090069 )