Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term). Disease data Classification Etiological subtype Synonyms PSPH deficiency, infantile/juvenile form PSPH deficiency, infantile/juvenile form ORPHA code 79350 OMIM code 614023 ICD10 code E72.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl