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Muscle-eye-brain disease with bilateral multicystic leucodystrophy

ORPHA:370997 · Disease · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(19)

  • Abnormal brainstem morphologyHP:0002363
  • Abnormal pons morphologyHP:0007361
  • Absent speechHP:0001344
  • AgyriaHP:0031882
  • Cerebellar cystHP:0002350
  • Cerebellar vermis hypoplasiaHP:0001320
  • Delayed ability to sitHP:0025336
  • Delayed ability to walkHP:0031936
  • EEG with focal spike wavesHP:0011197
  • Elevated circulating creatine kinase activityHP:0003236
  • Floppy infantHP:0008947
  • Hypoglycosylation of alpha-dystroglycanHP:0030046
  • Hypoplasia of the corpus callosumHP:0002079
  • LeukodystrophyHP:0002415
  • PolymicrogyriaHP:0002126
  • Poor head controlHP:0002421
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • VentriculomegalyHP:0002119

Occasional (29-5%)(4)

  • BuphthalmosHP:0000557
  • CataractHP:0000518
  • High myopiaHP:0011003
  • Retinal dystrophyHP:0000556