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Ermine phenotype

ORPHA:999 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(3)

  • Hypopigmentation of hairHP:0005599
  • Hypopigmented skin patchesHP:0001053
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(3)

  • Irregular hyperpigmentationHP:0007400
  • Mild intellectual disabilityHP:0001256
  • Short statureHP:0004322

Occasional (29-5%)(10)

  • Abnormality of the noseHP:0000366
  • AstigmatismHP:0000483
  • Clinodactyly of the 5th fingerHP:0004209
  • HypotoniaHP:0001252
  • Iris hypopigmentationHP:0007730
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Ocular albinismHP:0001107
  • PhotophobiaHP:0000613
  • Toe syndactylyHP:0001770