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Autosomal dominant omodysplasia

ORPHA:93328 · Clinical subtype · Subtype of disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(5)

  • CryptorchidismHP:0000028
  • Elbow dislocationHP:0003042
  • RhizomeliaHP:0008905
  • Short 1st metacarpalHP:0010034
  • Short humerusHP:0005792

Frequent (79-30%)(8)

  • Bifid scrotumHP:0000048
  • Depressed nasal bridgeHP:0005280
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Hypoplasia of penisHP:0008736
  • Long philtrumHP:0000343
  • Malar flatteningHP:0000272
  • Short noseHP:0003196

Occasional (29-5%)(4)

  • Ambiguous genitaliaHP:0000062
  • MicrognathiaHP:0000347
  • Patellar dislocationHP:0002999
  • Short palmHP:0004279