Progressive neuromuscular and skeletal disorders in a male with an acrocentric supernumerary chromosome.
D000015:Abnormalities, Multiple; D000368:Aged; D001345:Autoradiography; D002386:Cataract; D003238:Connective Tissue / Q000378:metabolism; D004261:DNA Replication; D004569:Electroencephalography; D004576:Electromyography; D006554:Hernia, Umbilical; D006801:Humans; D007006:Hypogonadism; D008607:Intellectual Disability; D007713:Klinefelter Syndrome; D008297:Male; D008661:Metabolism, Inborn Errors; D009135:Muscular Diseases / Q000235:genetics*; D009139:Musculoskeletal Abnormalities; D009461:Neurologic Manifestations / Q000235:genetics; D010375:Pedigree; D012021:Reflex, Abnormal; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D006848:Testicular Hydrocele