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Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386 · Disease · Disorder

HPO 表現型（共 16 項）

Obligate (100%)(4)

  • Cognitive impairmentHP:0100543
  • HypertoniaHP:0001276
  • Palmoplantar hyperkeratosisHP:0000972
  • Unsteady gaitHP:0002317

Very frequent (99-80%)(4)

  • DementiaHP:0000726
  • EEG with generalized slow activityHP:0010845
  • Pseudobulbar signsHP:0002200
  • TetraparesisHP:0002273

Frequent (79-30%)(6)

  • ClumsinessHP:0002312
  • Diaphyseal dysplasiaHP:0100252
  • Muscle weaknessHP:0001324
  • PapuleHP:0200034
  • Slurred speechHP:0001350
  • Tip-toe gaitHP:0030051

Occasional (29-5%)(2)

  • Decreased number of peripheral myelinated nerve fibersHP:0003380
  • Hypoplasia of the corpus callosumHP:0002079