Human genes for Lesch-Nyhan syndrome
Lesch-Nyhan syndrome [DOID:1919]
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 hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.
Synonyms: Lesch-Nyhan syndrome, DOID:1919, LeschNyhan syndrome, Lesch-Nyhan disease, Lesch-Nyhan disorder ...
Linkouts: OMIM