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X-linked spinocerebellar ataxia type 3

ORPHA:85297 · Malformation syndrome · Disorder

HPO 表現型(共 6 項)

Very frequent (99-80%)(6)

  • AtaxiaHP:0001251
  • EsotropiaHP:0000565
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Optic atrophyHP:0000648
  • Sensorineural hearing impairmentHP:0000407