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Toluene embryopathy

ORPHA:1920 · Malformation syndrome · Disorder

HPO 表現型(共 22 項)

Very frequent (99-80%)(11)

  • Abnormal speech patternHP:0002167
  • Biparietal narrowingHP:0004422
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • HypotoniaHP:0001252
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Protruding earHP:0000411
  • Short statureHP:0004322
  • Tapered fingerHP:0001182

Frequent (79-30%)(9)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal localization of kidneyHP:0100542
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • HydronephrosisHP:0000126
  • Hypoplasia of the zygomatic boneHP:0010669
  • Short noseHP:0003196
  • Short palpebral fissureHP:0012745
  • Smooth philtrumHP:0000319

Occasional (29-5%)(2)

  • StrabismusHP:0000486
  • Thin vermilion borderHP:0000233