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Maternal hyperthermia-induced birth defects

ORPHA:2216 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(5)

  • Cognitive impairmentHP:0100543
  • EEG abnormalityHP:0002353
  • HypotoniaHP:0001252
  • SeizureHP:0001250
  • Short statureHP:0004322

Frequent (79-30%)(10)

  • Abnormality of neuronal migrationHP:0002269
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Bilateral single transverse palmar creasesHP:0007598
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Hypoplasia of penisHP:0008736
  • Intrauterine growth retardationHP:0001511
  • Joint stiffnessHP:0001387
  • MicrocephalyHP:0000252
  • Midface retrusionHP:0011800

Occasional (29-5%)(1)

  • HypertoniaHP:0001276