Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form Disease data Klasyfikacja Etiological subtype Synonimy PHGDH deficiency, infantile/juvenile form PHGDH deficiency, infantile/juvenile form Kod ORPHA 79351 Kod OMIM 601815 Kod ICD10 E72.8 Kod ICD11 - *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