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Growth delay-hydrocephaly-lung hypoplasia syndrome

ORPHA:3035 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(10)

  • Abnormality of the lower limbHP:0002814
  • Aqueductal stenosisHP:0002410
  • Bowing of the long bonesHP:0006487
  • Intestinal malrotationHP:0002566
  • Intrauterine growth retardationHP:0001511
  • Lower limb undergrowthHP:0009816
  • MicrognathiaHP:0000347
  • OmphaloceleHP:0001539
  • Pulmonary hypoplasiaHP:0002089
  • Radial bowingHP:0002986

Occasional (29-5%)(7)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal rib morphologyHP:0000772
  • Abnormally ossified vertebraeHP:0100569
  • Cerebral calcificationHP:0002514
  • SplenomegalyHP:0001744
  • Tibial bowingHP:0002982
  • Upslanted palpebral fissureHP:0000582