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Cockayne syndrome type 2

ORPHA:90322 · Clinical subtype · Subtype of disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Neurodevelopmental delayHP:0012758
  • Patchy demyelination of subcortical white matterHP:0002545
  • Subcortical white matter calcificationsHP:0007346

Frequent (79-30%)(6)

  • AtaxiaHP:0001251
  • Gait disturbanceHP:0001288
  • Long faceHP:0000276
  • Mandibular prognathiaHP:0000303
  • Postural instabilityHP:0002172
  • Progeroid facial appearanceHP:0005328

Occasional (29-5%)(26)

  • AnodontiaHP:0000674
  • AnophthalmiaHP:0000528
  • Axial hypotoniaHP:0008936
  • ConjunctivitisHP:0000509
  • Delayed eruption of primary teethHP:0000680
  • Developmental cataractHP:0000519
  • Enamel hypoplasiaHP:0006297
  • Feeding difficulties in infancyHP:0008872
  • Flexion contractureHP:0001371
  • Hearing impairmentHP:0000365
  • HepatomegalyHP:0002240
  • Hypermelanotic maculeHP:0001034
  • Hypoplasia of the primary teethHP:0006334
  • KyphosisHP:0002808
  • Limb hypertoniaHP:0002509
  • Lower limb spasticityHP:0002061
  • MacrotiaHP:0000400
  • NystagmusHP:0000639
  • PhotophobiaHP:0000613
  • ScarringHP:0100699
  • ScoliosisHP:0002650
  • Short chinHP:0000331
  • StrabismusHP:0000486
  • UveitisHP:0000554
  • Visual impairmentHP:0000505
  • Widely spaced primary teethHP:0006313

Very rare (<4-1%)(2)

  • CryptorchidismHP:0000028
  • Male hypogonadismHP:0000026