has material basis in germline mutation in PSPH syndromic intellectual disability PSPH deficiency https://www.malacards.org/card/phosphoserine_phosphatase_deficiency MEDGEN:452940 GARD:0016717 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. phosphoserine phosphatase deficiency DOID:0050724 3-phosphoserine phosphatase deficiency SCTID:124432005 PSPH deficiency OMIM:614023 Orphanet:79350 ICD9:277.6 MONDO:0013531 UMLS:C1291463 PSPHD neurometabolic disorder due to serine deficiency