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X-linked intellectual disability, Abidi type

ORPHA:85273 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(5)

  • Decreased testicular sizeHP:0008734
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340

Frequent (79-30%)(1)

  • Hearing impairmentHP:0000365

Occasional (29-5%)(6)

  • Cleft palateHP:0000175
  • Non-midline cleft of the upper lipHP:0100335
  • Pectus excavatumHP:0000767
  • Prominent nasal bridgeHP:0000426
  • Protruding earHP:0000411
  • ScoliosisHP:0002650