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MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

ORPHA:397744 · Disease · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(14)

  • Bilateral sensorineural hearing impairmentHP:0008619
  • Decreased nerve conduction velocityHP:0000762
  • EMG: myopathic abnormalitiesHP:0003458
  • Fatty replacement of skeletal muscleHP:0012548
  • Hoarse voiceHP:0001609
  • HyporeflexiaHP:0001265
  • Increased variability in muscle fiber diameterHP:0003557
  • Lower limb muscle weaknessHP:0007340
  • Mildly elevated creatine kinaseHP:0008180
  • Mitochondrial swellingHP:0030774
  • MyopathyHP:0003198
  • Peripheral neuropathyHP:0009830
  • Progressive distal muscle weaknessHP:0009063
  • Structural foot deformityHP:0010219

Occasional (29-5%)(3)

  • AreflexiaHP:0001284
  • Proximal muscle weaknessHP:0003701
  • TremorHP:0001337

Very rare (<4-1%)(2)

  • ArthritisHP:0001369
  • SeizureHP:0001250

Excluded (0%)(2)

  • DysphagiaHP:0002015
  • Vocal cord paralysisHP:0001605