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Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

ORPHA:440354 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(6)

  • Cleft palateHP:0000175
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • RhizomeliaHP:0008905
  • Upper airway obstructionHP:0002781

Frequent (79-30%)(13)

  • BrachydactylyHP:0001156
  • Dumbbell-shaped long boneHP:0000947
  • Femoral bowingHP:0002980
  • Frontal bossingHP:0002007
  • GlossoptosisHP:0000162
  • High myopiaHP:0011003
  • Hypoplastic scapulaeHP:0000882
  • Metaphyseal wideningHP:0003016
  • Midface retrusionHP:0011800
  • Premature birthHP:0001622
  • ProptosisHP:0000520
  • Sensorineural hearing impairmentHP:0000407
  • Short femurHP:0003097