| Disease ID | Source | Name | Description |
| 613708 | OMIM | Neuropathy, hereditary sensory, 1D (HSN1D) | A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. The disease is caused by variants affecting the gene represented in this entry. |
| 182600 | OMIM | Spastic paraplegia 3, autosomal dominant (SPG3) | A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry. |