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Sturge-Weber syndrome

ORPHA:3205 · Malformation syndrome · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(3)

  • Capillary hemangiomaHP:0005306
  • Facial capillary hemangiomaHP:0000996
  • SeizureHP:0001250

Frequent (79-30%)(16)

  • Abnormal cerebral vascular morphologyHP:0100659
  • Arachnoid hemangiomatosisHP:0012222
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Delayed speech and language developmentHP:0000750
  • GlaucomaHP:0000501
  • HeadacheHP:0002315
  • HyperreflexiaHP:0001347
  • Infantile spasmsHP:0012469
  • Intellectual disabilityHP:0001249
  • Lens luxationHP:0012019
  • Neurodevelopmental delayHP:0012758
  • Optic atrophyHP:0000648
  • StrabismusHP:0000486
  • StrokeHP:0001297
  • Visual field defectHP:0001123

Occasional (29-5%)(32)

  • Abnormal choroid morphologyHP:0000610
  • Abnormal retinal vascular morphologyHP:0008046
  • Abnormality of visionHP:0000504
  • Autistic behaviorHP:0000729
  • BlindnessHP:0000618
  • BuphthalmosHP:0000557
  • Central hypothyroidismHP:0011787
  • Cerebral calcificationHP:0002514
  • Cerebral cortical atrophyHP:0002120
  • Chiari malformationHP:0002308
  • Choroidal hemangiomaHP:0007872
  • Conjunctival telangiectasiaHP:0000524
  • Corneal dystrophyHP:0001131
  • Dental malocclusionHP:0000689
  • DysphagiaHP:0002015
  • EpiphoraHP:0009926
  • Gingival overgrowthHP:0000212
  • Hearing abnormalityHP:0000364
  • HemianopiaHP:0012377
  • Heterochromia iridisHP:0001100
  • HydrocephalusHP:0000238
  • HyperostosisHP:0100774
  • Iris colobomaHP:0000612
  • MacrocephalyHP:0000256
  • Ocular painHP:0200026
  • Pulmonary embolismHP:0002204
  • Reduced circulating growth hormone concentrationHP:0034323
  • Retinal detachmentHP:0000541
  • Sleep disturbanceHP:0002360
  • Venous thrombosisHP:0004936
  • Visceral angiomatosisHP:0100761
  • Visual lossHP:0000572