- OMIM ID
-
300323
- OMIM term:
- KELLEY-SEEGMILLER SYNDROME
- Alternative terms:
-
GOUT, HPRT-RELATED
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL
HPRT DEFICIENCY, PARTIAL
HPRT1 DEFICIENCY, PARTIAL
- (∗) Location:
- Xq26.2-q26.3
- (†) Associated OMIM genes:
- HPRT1 HPRT
- (‡) Associated MGI genes:
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