Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification.
D000293:Adolescent; D001479:Basal Ganglia / Q000378:metabolism; D001692:Biological Transport; D001856:Bone Marrow Examination; D001927:Brain Diseases / Q000209:etiology*; D002114:Calcinosis / Q000209:etiology*; D002869:Chromosome Aberrations; D004832:Epilepsy, Absence / Q000209:etiology; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology; D005260:Female; D005492:Folic Acid / Q000097:blood / Q000378:metabolism* / Q000627:therapeutic use; D005494:Folic Acid Deficiency / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D007408:Intestinal Absorption; D008286:Malabsorption Syndromes / Q000150:complications*; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013280:Stomatitis / Q000209:etiology; D014316:Tritium
D014316:Tritium; D005492:Folic Acid