← 返回搜尋

Brachydactyly type A4

ORPHA:93394 · Malformation syndrome · Disorder

HPO 表現型(共 6 項)

Very frequent (99-80%)(3)

  • Short middle phalanx of the 2nd fingerHP:0009577
  • Short middle phalanx of the 5th fingerHP:0004220
  • Shortening of all middle phalanges of the toesHP:0006239

Frequent (79-30%)(2)

  • Short statureHP:0004322
  • Symphalangism affecting the phalanges of the handHP:0009773

Occasional (29-5%)(1)

  • Talipes equinovarusHP:0001762