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Entry Name Description Category Pathway Gene
H02116 Phosphoserine phosphatase deficiency Phosphoserine phosphatase deficiency (PSPHD) has been reported in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome ... Inherited metabolic disorder PSPH [HSA:5723] [KO:K01079]
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