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Alopecia-intellectual disability syndrome

ORPHA:2850 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(9)

  • AlopeciaHP:0001596
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Delayed skeletal maturationHP:0002750
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Sparse body hairHP:0002231
  • Sparse scalp hairHP:0002209

Frequent (79-30%)(12)

  • Abnormal skeletal morphologyHP:0011842
  • BrachydactylyHP:0001156
  • EEG abnormalityHP:0002353
  • Growth delayHP:0001510
  • Hypergonadotropic hypogonadismHP:0000815
  • IchthyosisHP:0008064
  • PhotophobiaHP:0000613
  • SeizureHP:0001250
  • Short corpus callosumHP:0200012
  • Short statureHP:0004322
  • Sparse hairHP:0008070
  • Split handHP:0001171

Occasional (29-5%)(5)

  • Abnormal nasal morphologyHP:0005105
  • Flexion contractureHP:0001371
  • HyperkeratosisHP:0000962
  • MacrotiaHP:0000400
  • ScoliosisHP:0002650