Catalog

3-phosphoserine phosphatase deficiency

No MMS code

Link to WHO Definition

3-phosphoserine phosphatase deficiency – http://id.who.int/icd/entity/391283591

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