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VPS11-related autosomal recessive hypomyelinating leukodystrophy

ORPHA:466934 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(6)

  • Cerebral visual impairmentHP:0100704
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • SeizureHP:0001250

Frequent (79-30%)(17)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal periventricular white matter morphologyHP:0002518
  • Absent speechHP:0001344
  • ConstipationHP:0002019
  • Delayed CNS myelinationHP:0002188
  • Diffuse white matter abnormalitiesHP:0007204
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Growth delayHP:0001510
  • Hypoplasia of the corpus callosumHP:0002079
  • Multiple joint contracturesHP:0002828
  • Neurogenic bladderHP:0000011
  • Optic atrophyHP:0000648
  • Oromotor apraxiaHP:0007301
  • Poor speechHP:0002465
  • Sensorineural hearing impairmentHP:0000407
  • SpasticityHP:0001257
  • VentriculomegalyHP:0002119

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

  • Cerebellar atrophyHP:0001272

Excluded (0%)(2)

  • Coarse facial featuresHP:0000280
  • HepatosplenomegalyHP:0001433