| Disease ID | Source | Name | Description |
| 610100 | OMIM | Giant axonal neuropathy 2, autosomal dominant (GAN2) | An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. The disease is caused by variants affecting the gene represented in this entry. |