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Donnai-Barrow syndrome

ORPHA:2143 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(13)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • MyopiaHP:0000545
  • Posteriorly rotated earsHP:0000358
  • ProteinuriaHP:0000093
  • Sensorineural hearing impairmentHP:0000407
  • Short noseHP:0003196
  • Wide anterior fontanelHP:0000260
  • Widow's peakHP:0000349

Frequent (79-30%)(8)

  • Broad foreheadHP:0000337
  • Congenital diaphragmatic herniaHP:0000776
  • MacrocephalyHP:0000256
  • OmphaloceleHP:0001539
  • Progressive visual lossHP:0000529
  • ProptosisHP:0000520
  • Retinal detachmentHP:0000541
  • Umbilical herniaHP:0001537

Occasional (29-5%)(7)

  • Abnormality of the uterusHP:0000130
  • Bicornuate uterusHP:0000813
  • Intestinal malrotationHP:0002566
  • Iris colobomaHP:0000612
  • Retinal dystrophyHP:0000556
  • SeizureHP:0001250
  • Ventricular septal defectHP:0001629