| Disease ID | Source | Name | Description |
| 270800 | OMIM | Spastic paraplegia 5A, autosomal recessive (SPG5A) | 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. The disease is caused by variants affecting the gene represented in this entry. |
| 613812 | OMIM | Congenital bile acid synthesis defect 3 (CBAS3) | A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. The disease is caused by variants affecting the gene represented in this entry. |