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Hypotrichosis with juvenile macular degeneration

ORPHA:1573 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(5)

  • Abnormal macular pigmentationHP:0008002
  • BlindnessHP:0000618
  • Macular degenerationHP:0000608
  • Short statureHP:0004322
  • Sparse scalp hairHP:0002209

Frequent (79-30%)(3)

  • Brittle hairHP:0002299
  • Fine hairHP:0002213
  • Pili tortiHP:0003777

Occasional (29-5%)(7)

  • Abnormal limb bone morphologyHP:0002813
  • FrecklingHP:0001480
  • HyperkeratosisHP:0000962
  • Immunologic hypersensitivityHP:0100326
  • Melanocytic nevusHP:0000995
  • NystagmusHP:0000639
  • Skeletal dysplasiaHP:0002652