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Craniofacial conodysplasia

ORPHA:85168 · Malformation syndrome · Disorder

HPO 表現型（共 5 項）

Very frequent (99-80%)(5)

  • Abnormality of the faceHP:0000271
  • Cone-shaped epiphyses of the phalanges of the handHP:0010230
  • Craniofacial dysostosisHP:0004439
  • HydrocephalusHP:0000238
  • Spinal cord compressionHP:0002176