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ENPhosphoserine Phosphatase Deficiency (PSPHD)
Alias:
Deficiency of Phosphoserine Phosphatase
Psphd
Psph Deficiency
3-Phosphoserine Phosphatase Deficiency, Infantile/juvenile Form
Psph Deficiency, Infantile/juvenile Form
Deficiency, Phosphoserine Phosphatase
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Phosphoserine Phosphatase Deficiency, also known as deficiency of phosphoserine phosphatase, is related to serine deficiency and neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency, and has symptoms including seizures An important gene associated with Phosphoserine Phosphatase Deficiency is PSPH (Phosphoserine Phosphatase), and among its related pathways/superpathways is One-carbon metabolism and related pathways. Related phenotypes are global developmental delay and postnatal growth retardation
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MALACARDS
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