A SEX-LINKED DISORDER WITH MENTAL AND PHYSICAL RETARDATION CHARACTERIZED BY CEREBROCORTICAL ATROPHY AND INCREASE OF GLUTAMIC ACID IN THE CEREBROSPINAL FLUID.
D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids; D001284:Atrophy; D001769:Blood; D001927:Brain Diseases; D002555:Cerebrospinal Fluid; D002875:Chromosomes; D005690:Galactose; D005826:Genetics, Medical; D005971:Glutamates; D018698:Glutamic Acid; D005973:Glutamine; D006128:Growth; D006801:Humans; D008607:Intellectual Disability; D007668:Kidney; D000608:Renal Aminoacidurias; D014556:Urine
D000596:Amino Acids; D005971:Glutamates; D005973:Glutamine; D018698:Glutamic Acid; D005690:Galactose
AMINO ACIDS; AMINOACIDURIA, RENAL; ATROPHY; BLOOD; BRAIN DISEASES; CEREBROSPINAL FLUID; CHROMOSOMES; GALACTOSE; GENETICS, HUMAN; GLUTAMATES; GLUTAMINE; GROWTH; MENTAL RETARDATION; URINE