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Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

ORPHA:83629 · Disease · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(2)

  • LeukoencephalopathyHP:0002352
  • Metaphyseal chondrodysplasiaHP:0005871

Frequent (79-30%)(17)

  • Abnormal astrocyte morphologyHP:0100707
  • Abnormal brainstem MRI signal intensityHP:0012747
  • Abnormal optic nerve morphologyHP:0000587
  • Abnormal pyramidal tract morphologyHP:0002062
  • Babinski signHP:0003487
  • Cerebral atrophyHP:0002059
  • Enlargement of the wristsHP:0003020
  • Gait disturbanceHP:0001288
  • HyperreflexiaHP:0001347
  • Hypoplasia of the corpus callosumHP:0002079
  • Intellectual disabilityHP:0001249
  • Large kneeHP:0030866
  • Reduced bone mineral densityHP:0004349
  • Spastic paraplegiaHP:0001258
  • Tip-toe gaitHP:0030051
  • TremorHP:0001337
  • Visual impairmentHP:0000505

Occasional (29-5%)(4)

  • Anteverted naresHP:0000463
  • Depressed nasal bridgeHP:0005280
  • Horizontal nystagmusHP:0000666
  • Midface retrusionHP:0011800