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Xp21 deletion syndrome

ORPHA:261476 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(15)

  • Adrenal insufficiencyHP:0000846
  • Elevated circulating creatine kinase activityHP:0003236
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypertriglyceridemiaHP:0002155
  • Hypogonadotropic hypogonadismHP:0000044
  • Intellectual disabilityHP:0001249
  • KetoacidosisHP:0001993
  • MyopathyHP:0003198
  • Nausea and vomitingHP:0002017
  • Neonatal hypotoniaHP:0001319
  • OsteoporosisHP:0000939
  • Primary adrenal insufficiencyHP:0008207
  • Reduced bone mineral densityHP:0004349
  • SpasticityHP:0001257

Frequent (79-30%)(8)

  • Calf muscle hypertrophyHP:0008981
  • ConfusionHP:0001289
  • Decreased muscle massHP:0003199
  • EsotropiaHP:0000565
  • Everted lower lip vermilionHP:0000232
  • Finger clinodactylyHP:0040019
  • HypertelorismHP:0000316
  • StrabismusHP:0000486

Occasional (29-5%)(9)

  • Agenesis of corpus callosumHP:0001274
  • Apneic episodes in infancyHP:0005949
  • ComaHP:0001259
  • Exercise-induced myalgiaHP:0003738
  • HypermetropiaHP:0000540
  • Increased muscle fatiguabilityHP:0003750
  • Joint hypermobilityHP:0001382
  • Recurrent otitis mediaHP:0000403
  • SeizureHP:0001250