has material basis in germline mutation in PHGDH syndromic intellectual disability PHGDH deficiency https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/phosphoglycerate_dehydrogenase_deficiency PHGDH deficiency 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form PHGDHD GARD:0016718 MEDGEN:400935 MONDO:0011152 OMIM:601815 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome 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 UMLS:C1866174 MESH:C566618 DOID:0050722 Orphanet:79351 PHOSPHOGLYCERATE dehydrogenase deficiency 3-phosphoglycerate dehydrogenase deficiency