PSPH deficiency

MONDO:0013531

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.

Also known as: PSPH deficiency, PSPHD, phosphoserine phosphatase deficiency, 3-phosphoserine phosphatase deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with PSPH deficiency itself.

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↑ Neurometabolic disorder due to serine deficiency (1)

Including sub-types (0) Tagged with PSPH deficiency (0)

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