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Cerebellar ataxia-hypogonadism syndrome

ORPHA:1173 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(11)

  • Abnormal electroretinogramHP:0000512
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal speech patternHP:0002167
  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • AtaxiaHP:0001251
  • Decreased fertilityHP:0000144
  • GynecomastiaHP:0000771
  • HypogonadismHP:0000135
  • Hypogonadotropic hypogonadismHP:0000044
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648

Frequent (79-30%)(2)

  • Hemiplegia/hemiparesisHP:0004374
  • HypotoniaHP:0001252

Occasional (29-5%)(7)

  • Atypical behaviorHP:0000708
  • BrachycephalyHP:0000248
  • Clinodactyly of the 5th fingerHP:0004209
  • DementiaHP:0000726
  • Personality changesHP:0000751
  • Short statureHP:0004322
  • Supernumerary nippleHP:0002558