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Gorlin-Chaudhry-Moss syndrome

ORPHA:2095 · Clinical subtype · Subtype of disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(19)

  • Abnormal eyelid morphologyHP:0000492
  • Abnormal foot morphologyHP:0001760
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • BrachycephalyHP:0000248
  • Coarse hairHP:0002208
  • Conductive hearing impairmentHP:0000405
  • Congenital craniofacial dysostosisHP:0008497
  • Coronal craniosynostosisHP:0004440
  • Generalized hirsutismHP:0002230
  • HypertelorismHP:0000316
  • Low anterior hairlineHP:0000294
  • NystagmusHP:0000639
  • OligodontiaHP:0000677
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322
  • Underdeveloped supraorbital ridgesHP:0009891

Frequent (79-30%)(7)

  • Abnormal skull morphologyHP:0000929
  • Aplasia/Hypoplasia of the nasal boneHP:0010940
  • AstigmatismHP:0000483
  • Hypoplasia of the maxillaHP:0000327
  • Patent ductus arteriosusHP:0001643
  • SclerocorneaHP:0000647
  • Umbilical herniaHP:0001537

Occasional (29-5%)(2)

  • Mild intellectual disabilityHP:0001256
  • Upper eyelid colobomaHP:0000636