Lesch-Nyhan syndrome

Synonym(s)
- Hypoxanthine guanine phosphoribosyltransferase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HPRT1 / Hypoxanthine Phosphoribosyltransferase 1
  Xq26.2-q26.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Hypoxanthine-guanine phosphoribosyltransferase
Disease group(s)
- 16.2 Disorders of purine metabolism
Child entries
- Kelley-Seegmiller syndrome