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Mulibrey nanism

ORPHA:2576 · Malformation syndrome · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(7)

  • Abnormally high-pitched voiceHP:0001620
  • CachexiaHP:0004326
  • Diminished deep tendon reflexHP:0001315
  • Intrauterine growth retardationHP:0001511
  • J-shaped sella turcicaHP:0002680
  • MacrocephalyHP:0000256
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • HepatomegalyHP:0002240
  • Wide nasal bridgeHP:0000431