| Disease ID | Source | Name | Description |
| 256850 | OMIM | Giant axonal neuropathy 1, autosomal recessive (GAN1) | A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. The disease is caused by variants affecting the gene represented in this entry. |