Table 1.

HPRT1 Disorders: Clinical Findings by Phenotype

Clinical Findings
Hyperuricemia, nephrolithiasis, or gouty arthritisNDD w/motor impairment resembling severe cerebral palsyIDSelf-injurious behavior
Lesch-Nyhan disease+++++++++++
HPRT1-related neurologic dysfunction++++ to ++++ to ++
HPRT1-related hyperuricemia+++NANA

ID = intellectual disability; NA = not applicable; NDD = neurodevelopmental delay

From: HPRT1 Disorders

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