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Xq21 microdeletion syndrome

ORPHA:1435 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(4)

  • Abnormal chorioretinal morphologyHP:0000532
  • Chorioretinal degenerationHP:0200065
  • Chorioretinal scalloped atrophyHP:0001139
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(25)

  • Abnormal Achilles tendon morphologyHP:0005109
  • Abnormal cochlea morphologyHP:0000375
  • Ankle clonusHP:0011448
  • Anterior hypopituitarismHP:0000830
  • AtaxiaHP:0001251
  • Bilateral sensorineural hearing impairmentHP:0008619
  • Conductive hearing impairmentHP:0000405
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed skeletal maturationHP:0002750
  • Dilatated internal auditory canalHP:0004458
  • Gait ataxiaHP:0002066
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HyperreflexiaHP:0001347
  • Mild intellectual disabilityHP:0001256
  • ObesityHP:0001513
  • Optic atrophyHP:0000648
  • Peripheral visual field lossHP:0007994
  • Pituitary hypothyroidismHP:0008245
  • Postnatal growth retardationHP:0008897
  • Progressive night blindnessHP:0007675
  • Reduced visual acuityHP:0007663
  • Reticular pigmentary degenerationHP:0007937
  • Stapes ankylosisHP:0000381
  • Visual acuity test abnormalityHP:0030532

Occasional (29-5%)(7)

  • DysdiadochokinesisHP:0002075
  • HypertensionHP:0000822
  • NystagmusHP:0000639
  • Renal artery stenosisHP:0001920
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Upper limb muscle weaknessHP:0003484

Excluded (0%)(3)

  • Adrenocorticotropic hormone deficiencyHP:0011748
  • Anterior pituitary dysgenesisHP:0010625
  • Central diabetes insipidusHP:0000863