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Brachydactyly type A1

ORPHA:93388 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(5)

  • Short footHP:0001773
  • Short halluxHP:0010109
  • Short middle phalanx of fingerHP:0005819
  • Short statureHP:0004322
  • Short thumbHP:0009778

Frequent (79-30%)(1)

  • Cone-shaped epiphysisHP:0010579

Occasional (29-5%)(6)

  • Broad metacarpalsHP:0001230
  • Clinodactyly of the 5th fingerHP:0004209
  • Distal finger symphalangismHP:0001204
  • Hypoplasia of the ulnaHP:0003022
  • ScoliosisHP:0002650
  • Talipes equinovarusHP:0001762