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MEPAN syndrome

ORPHA:508093 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(3)

  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Striatal T2 hyperintensityHP:0031206

Frequent (79-30%)(8)

  • Craniofacial dystoniaHP:0012179
  • DyskinesiaHP:0100660
  • Gait disturbanceHP:0001288
  • Limb dystoniaHP:0002451
  • Motor delayHP:0001270
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Reduced visual acuityHP:0007663

Occasional (29-5%)(20)

  • Abnormality of visual evoked potentialsHP:0000649
  • AtaxiaHP:0001251
  • Axial dystoniaHP:0002530
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • ChoreaHP:0002072
  • Decreased activity of mitochondrial complex IHP:0011923
  • Decreased activity of mitochondrial complex IIHP:0008314
  • Decreased activity of mitochondrial complex IVHP:0008347
  • DysphagiaHP:0002015
  • Elevated brain lactate level by MRSHP:0012707
  • EsophoriaHP:0025312
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • HeadacheHP:0002315
  • HemidystoniaHP:0032005
  • HypotoniaHP:0001252
  • Muscle weaknessHP:0001324
  • MyoclonusHP:0001336
  • SpasticityHP:0001257