← 返回搜尋

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

ORPHA:3240 · Disease · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(17)

  • Absent brainstem auditory responsesHP:0004463
  • Absent speechHP:0001344
  • Atopic dermatitisHP:0001047
  • Axial hypotoniaHP:0008936
  • Cerebellar hypoplasiaHP:0001321
  • Developmental regressionHP:0002376
  • Diffuse cerebral atrophyHP:0002506
  • GliosisHP:0002171
  • Growth delayHP:0001510
  • Head titubationHP:0002599
  • HyperreflexiaHP:0001347
  • Hypochromic microcytic anemiaHP:0004840
  • Increased circulating ferritin concentrationHP:0003281
  • SeizureHP:0001250
  • Spastic tetraplegiaHP:0002510
  • Subcortical white matter calcificationsHP:0007346
  • Vestibular areflexiaHP:0008568

Occasional (29-5%)(4)

  • DiarrheaHP:0002014
  • Respiratory failureHP:0002878
  • ThrombocytopeniaHP:0001873
  • VomitingHP:0002013

Excluded (0%)(2)

  • DystoniaHP:0001332
  • OsteopetrosisHP:0011002