| Disease ID | Source | Name | Description |
| 607225 | OMIM | Infantile-onset ascending spastic paralysis (IAHSP) | Characterized by progressive spasticity and weakness of limbs. The disease is caused by variants affecting the gene represented in this entry. |
| 205100 | OMIM | Amyotrophic lateral sclerosis 2 (ALS2) | A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. The disease is caused by variants affecting the gene represented in this entry. |
| 606353 | OMIM | Juvenile primary lateral sclerosis (JPLS) | A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected. The disease is caused by variants affecting the gene represented in this entry. |