Abstract:Pathogenic variants in HPRT1 lead to deficiency in hypoxanthine‐guanine phosphoribosyltransferase and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch–Nyhan syndrome (LNS) and is inherited in an X‐linked recessive manner. Most individuals with LNS have profound intellectual and physical disabilities throughout life including self‐mutilating behaviors. Here, we present the case of a male infant who was diagnosed with LNS at 3 weeks of age via rapid exome sequencing (ES), which r… Show more
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