Progressive ataxia, retinal degeneration, neuromyopathy, and mental subnormality in a patient with true hypoparathyroidism, dwarfism, malabsorption, and cholelithiasis.
D000328:Adult; D001259:Ataxia / Q000150:complications*; D002769:Cholelithiasis / Q000150:complications*; D004392:Dwarfism / Q000150:complications*; D005260:Female; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications*; D008607:Intellectual Disability / Q000150:complications*; D008286:Malabsorption Syndromes / Q000150:complications*; D008661:Metabolism, Inborn Errors / Q000150:complications; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000150:complications* / Q000473:pathology; D012162:Retinal Degeneration / Q000150:complications*; D012600:Scoliosis / Q000150:complications; D013163:Splenomegaly / Q000150:complications; D000159:Vestibulocochlear Nerve