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Brachydactyly type E

ORPHA:93387 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(2)

  • Short metacarpalHP:0010049
  • Type E brachydactylyHP:0005863

Frequent (79-30%)(3)

  • Joint hypermobilityHP:0001382
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322

Occasional (29-5%)(5)

  • Aplasia/Hypoplasia of the distal phalanx of the halluxHP:0010076
  • Frontal bossingHP:0002007
  • MacrocephalyHP:0000256
  • Short metatarsalHP:0010743
  • Upper limb asymmetryHP:0100560