| Disease ID | Source | Name | Description |
| 312920 | OMIM | Spastic paraplegia 2, X-linked (SPG2) | 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. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy. The disease is caused by variants affecting the gene represented in this entry. |
| 312080 | OMIM | Leukodystrophy, hypomyelinating, 1 (HLD1) | An X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. The disease is caused by variants affecting the gene represented in this entry. |