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Pedigree of 4-year-old girl with Lesch-Nyhan disease

This girl presented with typical characteristics of the disease: global developmental delay, self-mutilation, hyperuricemia, hypotonia, speech delay, spasticity, and seizures. (Source: AlBakheet A, AlQudairy H, Alkhalifah J, Almoaily S, Kaya N, Rahbeeni Z. Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome. Front Genet 2023;13:1044936. Creative Commons Attribution License [CC BY], https://creativecommons.org/licenses/by/4.0.)

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