| Disease ID | Source | Name | Description |
| 615035 | OMIM | Spastic paraplegia 55, autosomal recessive (SPG55) | 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. The disease is caused by variants affecting the gene represented in this entry. |
| 613559 | OMIM | Combined oxidative phosphorylation deficiency 7 (COXPD7) | A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. The disease is caused by variants affecting the gene represented in this entry. |