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Ophthalmomandibulomelic dysplasia

ORPHA:2741 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(17)

  • Abnormality of bone mineral densityHP:0004348
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • BlindnessHP:0000618
  • Camptodactyly of fingerHP:0100490
  • Corneal opacityHP:0007957
  • Elbow dislocationHP:0003042
  • Lateral humeral condyle aplasiaHP:0006441
  • Limitation of joint mobilityHP:0001376
  • MesomeliaHP:0003027
  • MicromeliaHP:0002983
  • Obtuse angle of mandibleHP:0005446
  • Radioulnar dislocationHP:0006439
  • Radioulnar synostosisHP:0002974
  • Symphalangism affecting the phalanges of the handHP:0009773
  • Synostosis of carpal bonesHP:0005048
  • Temporomandibular joint ankylosisHP:0012478
  • Ulnar deviated club handsHP:0006055

Occasional (29-5%)(2)

  • GlaucomaHP:0000501
  • MegalocorneaHP:0000485