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Miller-Dieker syndrome

ORPHA:531 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(10)

  • Abnormal upper lip morphologyHP:0000177
  • Anteverted naresHP:0000463
  • Cerebral cortical atrophyHP:0002120
  • EEG abnormalityHP:0002353
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • High foreheadHP:0000348
  • LissencephalyHP:0001339
  • SeizureHP:0001250
  • Short noseHP:0003196

Frequent (79-30%)(2)

  • Abnormality of the cardiovascular systemHP:0001626
  • PolyhydramniosHP:0001561

Occasional (29-5%)(6)

  • AtaxiaHP:0001251
  • Clinodactyly of the 5th fingerHP:0004209
  • Hypoplasia of the corpus callosumHP:0002079
  • NephropathyHP:0000112
  • OmphaloceleHP:0001539
  • Sacral dimpleHP:0000960