PSAT deficiency

MONDO:0012596

Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.

Also known as: PSAT deficiency, phosphoserine aminotransferase deficiency, PSATD

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

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↑ Neurometabolic disorder due to serine deficiency (1)

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

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