PHGDH deficiency
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
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0018491
3-phosphoglycerate dehydrogenase deficiency
is_a
PHGDH deficiency
exact
PHGDHD
related
PHOSPHOGLYCERATE dehydrogenase deficiency
exact
SPCC364.07