| Disease ID | Source | Name | Description |
| 614066 | OMIM | Spastic paraplegia 47, autosomal recessive (SPG47) | A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. The disease is caused by variants affecting the gene represented in this entry. |