Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Genes: prtfdc1 (Xtr)

Lesch-Nyhan syndrome

Disease
Source: DOID:1919
Definition: A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Genes: prtfdc1 (Xtr)