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Microform holoprosencephaly

ORPHA:280200 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(3)

  • Choanal atresiaHP:0000453
  • Midnasal stenosisHP:0010644
  • Solitary median maxillary central incisorHP:0006315

Frequent (79-30%)(9)

  • HypotelorismHP:0000601
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Narrow nasal bridgeHP:0000446
  • Premature birthHP:0001622
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Tented upper lip vermilionHP:0010804

Occasional (29-5%)(23)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Agenesis of corpus callosumHP:0001274
  • Ambiguous genitaliaHP:0000062
  • Anteverted naresHP:0000463
  • AsthmaHP:0002099
  • Cleft palateHP:0000175
  • CyclopiaHP:0009914
  • Duodenal atresiaHP:0002247
  • EMG: myopathic abnormalitiesHP:0003458
  • HemangiomaHP:0001028
  • HoloprosencephalyHP:0001360
  • Hypoplasia of penisHP:0008736
  • HypothyroidismHP:0000821
  • Iris colobomaHP:0000612
  • Maternal diabetesHP:0009800
  • Orofacial cleftHP:0000202
  • PanhypopituitarismHP:0000871
  • Renal agenesisHP:0000104
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short noseHP:0003196
  • StrabismusHP:0000486
  • Tetralogy of FallotHP:0001636