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Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(19)

  • Abnormal muscle fiber morphologyHP:0004303
  • Abnormal palate morphologyHP:0000174
  • Clinodactyly of the 5th fingerHP:0004209
  • Craniofacial hyperostosisHP:0004493
  • Delayed skeletal maturationHP:0002750
  • Disproportionate tall statureHP:0001519
  • Downslanted palpebral fissuresHP:0000494
  • Facial palsyHP:0010628
  • HyperlordosisHP:0003307
  • HypertelorismHP:0000316
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplasia of penisHP:0008736
  • MyopiaHP:0000545
  • OphthalmoparesisHP:0000597
  • PtosisHP:0000508
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • Sparse body hairHP:0002231

Frequent (79-30%)(5)

  • Abnormal hip bone morphologyHP:0003272
  • Limitation of joint mobilityHP:0001376
  • MicrocephalyHP:0000252
  • Prominent nasal bridgeHP:0000426
  • Protruding earHP:0000411

Occasional (29-5%)(6)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal pinna morphologyHP:0000377
  • Abnormal rib morphologyHP:0000772
  • Facial asymmetryHP:0000324
  • Pectus carinatumHP:0000768
  • Tracheoesophageal fistulaHP:0002575