A peculiar type of familial mental deficiency, probably due to metabolic disturbance.
D000138:Acidosis; D000596:Amino Acids / Q000652:urine*; D004392:Dwarfism; D006801:Humans; D008607:Intellectual Disability; D009136:Muscular Dystrophies; D010024:Osteoporosis
D000596:Amino Acids
ACIDOSIS; AMINO ACIDURIA; DWARFISM; MENTAL DEFICIENCY; MUSCULAR DYSTROPHY; OSTEOPOROSIS