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Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(8)

  • Camptodactyly of fingerHP:0100490
  • Frontal bossingHP:0002007
  • Limitation of joint mobilityHP:0001376
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • MicrotiaHP:0008551
  • Patent ductus arteriosusHP:0001643
  • Short noseHP:0003196

Frequent (79-30%)(7)

  • Abnormality of the bladderHP:0000014
  • Abnormality of the upper urinary tractHP:0010935
  • Duodenal stenosisHP:0100867
  • HydroureterHP:0000072
  • Hypoplasia of penisHP:0008736
  • PolyhydramniosHP:0001561
  • Symphalangism affecting the phalanges of the handHP:0009773