| Disease ID | Source | Name | Description |
| 614067 | OMIM | Spastic paraplegia 52, autosomal recessive (SPG52) | A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Some patients may have seizures. The disease is caused by variants affecting the gene represented in this entry. |