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Autosomal recessive omodysplasia

ORPHA:93329 · Clinical subtype · Subtype of disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(12)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal morphology of the radiusHP:0002818
  • Anteverted naresHP:0000463
  • Depressed nasal bridgeHP:0005280
  • Elbow dislocationHP:0003042
  • Frontal bossingHP:0002007
  • Hypoplastic distal humeriHP:0005025
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Posteriorly rotated earsHP:0000358
  • RhizomeliaHP:0008905
  • Short statureHP:0004322

Frequent (79-30%)(5)

  • Abnormal femur morphologyHP:0002823
  • CryptorchidismHP:0000028
  • MesomeliaHP:0003027
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983

Occasional (29-5%)(7)

  • Abnormal cardiovascular system morphologyHP:0030680
  • CraniosynostosisHP:0001363
  • HerniaHP:0100790
  • Increased nuchal translucencyHP:0010880
  • Intellectual disabilityHP:0001249
  • PterygiumHP:0001059
  • Short noseHP:0003196