- OMIM ID
-
300322
- OMIM term:
- LESCH-NYHAN SYNDROME; LNS
- Alternative terms:
-
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY
HPRT1 DEFICIENCY
HPRT DEFICIENCY
HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED
LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT, INCLUDED
- (∗) Location:
- Xq26.2-q26.3
- (†) Associated OMIM genes:
- HPRT1 HPRT
- (‡) Associated MGI genes:
- Hprt
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