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X-linked sideroblastic anemia and spinocerebellar ataxia

ORPHA:2802 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(6)

  • Abnormal speech patternHP:0002167
  • AnemiaHP:0001903
  • AtaxiaHP:0001251
  • Delayed ability to walkHP:0031936
  • Gait ataxiaHP:0002066
  • Increased erythrocyte protoporphyrin concentrationHP:0012187

Frequent (79-30%)(11)

  • AnisocytosisHP:0011273
  • Brisk reflexesHP:0001348
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • DysarthriaHP:0001260
  • HyperreflexiaHP:0001347
  • Hypochromic microcytic anemiaHP:0004840
  • NystagmusHP:0000639
  • Postural instabilityHP:0002172
  • Sideroblastic anemiaHP:0001924
  • StrabismusHP:0000486

Occasional (29-5%)(9)

  • AutismHP:0000717
  • Cerebellar atrophyHP:0001272
  • DysdiadochokinesisHP:0002075
  • DysmetriaHP:0001310
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Increased bone marrow ironHP:0034499
  • Pappenheimer bodiesHP:0020081
  • PoikilocytosisHP:0004447

Very rare (<4-1%)(6)

  • Cognitive impairmentHP:0100543
  • CryptorchidismHP:0000028
  • DepressionHP:0000716
  • Organic aciduriaHP:0001992
  • SchizophreniaHP:0100753
  • SeizureHP:0001250