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Hartsfield syndrome

ORPHA:2117 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(15)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Cleft palateHP:0000175
  • CraniosynostosisHP:0001363
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • EncephaloceleHP:0002084
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • Lobar holoprosencephalyHP:0006870
  • MicrophthalmiaHP:0000568
  • Non-midline cleft of the upper lipHP:0100335
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Respiratory insufficiencyHP:0002093
  • TelecanthusHP:0000506

Frequent (79-30%)(2)

  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Split handHP:0001171