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Cockayne syndrome type 3

ORPHA:90324 · Clinical subtype · Subtype of disorder

HPO 表現型（共 74 項）

Very frequent (99-80%)(5)

  • Abnormal myelinationHP:0012447
  • AstrocytosisHP:0002446
  • Basal ganglia calcificationHP:0002135
  • Cerebellar dentate nucleus calcificationHP:0002461
  • Subcortical white matter calcificationsHP:0007346

Frequent (79-30%)(19)

  • Abnormality of peripheral nerve conductionHP:0003134
  • Adult onset sensorineural hearing impairmentHP:0008615
  • AreflexiaHP:0001284
  • Brain atrophyHP:0012444
  • Cerebral white matter atrophyHP:0012762
  • Cutaneous photosensitivityHP:0000992
  • Demyelinating peripheral neuropathyHP:0007108
  • Functional motor deficitHP:0004302
  • Gait disturbanceHP:0001288
  • HyperreflexiaHP:0001347
  • Intention tremorHP:0002080
  • Mild intellectual disabilityHP:0001256
  • Neurogenic bladderHP:0000011
  • Peripheral axonal neuropathyHP:0003477
  • Peripheral neuropathyHP:0009830
  • Premature coronary artery atherosclerosisHP:0005181
  • Skeletal muscle atrophyHP:0003202
  • Unsteady gaitHP:0002317
  • Vascular calcificationHP:0004934

Occasional (29-5%)(32)

  • Abnormal facial shapeHP:0001999
  • Carious teethHP:0000670
  • CataractHP:0000518
  • Cognitive impairmentHP:0100543
  • Conductive hearing impairmentHP:0000405
  • Deeply set eyeHP:0000490
  • Dry hairHP:0011359
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Enamel hypoplasiaHP:0006297
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • HepatomegalyHP:0002240
  • HydronephrosisHP:0000126
  • HydroureterHP:0000072
  • HypermetropiaHP:0000540
  • Increased blood pressureHP:0032263
  • KyphosisHP:0002808
  • MacrotiaHP:0000400
  • Mild postnatal growth retardationHP:0001530
  • Narrow noseHP:0000460
  • Neurodevelopmental delayHP:0012758
  • NystagmusHP:0000639
  • PhotophobiaHP:0000613
  • Premature graying of hairHP:0002216
  • Progressive microcephalyHP:0000253
  • Progressive neurologic deteriorationHP:0002344
  • Renal insufficiencyHP:0000083
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short chinHP:0000331
  • StrabismusHP:0000486
  • Urinary retentionHP:0000016

Very rare (<4-1%)(18)

  • Aortic root aneurysmHP:0002616
  • CardiomyopathyHP:0001638
  • Corneal ulcerationHP:0012804
  • Flexion contractureHP:0001371
  • Keratoconjunctivitis siccaHP:0001097
  • LentiglobusHP:0011527
  • MicrocorneaHP:0000482
  • MicrophthalmiaHP:0000568
  • Optic disc pallorHP:0000543
  • Renal hypoplasiaHP:0000089
  • Retinal atrophyHP:0001105
  • Retinal degenerationHP:0000546
  • Retinal dystrophyHP:0000556
  • Retinal hemorrhageHP:0000573
  • SplenomegalyHP:0001744
  • StrokeHP:0001297
  • Subdural hemorrhageHP:0100309
  • Unilateral renal agenesisHP:0000122