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Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

ORPHA:3042 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(21)

  • Abnormal palate morphologyHP:0000174
  • Abnormal vertebral body morphologyHP:0003312
  • AnemiaHP:0001903
  • Bone cystHP:0012062
  • Calcification of the auricular cartilageHP:0005103
  • CataractHP:0000518
  • Conductive hearing impairmentHP:0000405
  • Developmental regressionHP:0002376
  • Flexion contractureHP:0001371
  • Gait disturbanceHP:0001288
  • Hip contractureHP:0003273
  • HydrocephalusHP:0000238
  • HypogonadismHP:0000135
  • Intellectual disabilityHP:0001249
  • Irregular vertebral endplatesHP:0003301
  • KyphosisHP:0002808
  • MacrotiaHP:0000400
  • MyopathyHP:0003198
  • OsteolysisHP:0002797
  • Posterior scalloping of vertebral bodiesHP:0005121
  • ScoliosisHP:0002650

Frequent (79-30%)(12)

  • AnonychiaHP:0001798
  • Bilateral cryptorchidismHP:0008689
  • Downslanted palpebral fissuresHP:0000494
  • GynecomastiaHP:0000771
  • Midface retrusionHP:0011800
  • Narrow chestHP:0000774
  • Narrow iliac wingHP:0002868
  • Pectus excavatumHP:0000767
  • PlagiocephalyHP:0001357
  • SeizureHP:0001250
  • Short statureHP:0004322
  • SynophrysHP:0000664