General Neurology
Micturition syncope and defecation syncope
May. 14, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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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.)