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Kjellin syndrome

ORPHA:100996 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(1)

  • Hypoplasia of the corpus callosumHP:0002079

Frequent (79-30%)(25)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Babinski signHP:0003487
  • Cognitive impairmentHP:0100543
  • Deep cerebral white matter hyperintensitiesHP:0030892
  • Demyelinating peripheral neuropathyHP:0007108
  • DysarthriaHP:0001260
  • Functional abnormality of the bladderHP:0000009
  • Gait disturbanceHP:0001288
  • Intellectual disabilityHP:0001249
  • Leg muscle stiffnessHP:0008969
  • Lower limb hyperreflexiaHP:0002395
  • Lower limb spasticityHP:0002061
  • Muscle weaknessHP:0001324
  • NystagmusHP:0000639
  • Peripheral axonal neuropathyHP:0003477
  • Pigmentary retinopathyHP:0000580
  • Pseudobulbar paralysisHP:0007024
  • Retinal flecksHP:0012045
  • Spastic paraplegiaHP:0001258
  • SpasticityHP:0001257
  • Upper limb muscle weaknessHP:0003484
  • Upper limb spasticityHP:0006986
  • Yellow/white retinal lesionHP:0030506

Occasional (29-5%)(12)

  • Abnormality of eye movementHP:0000496
  • Atypical behaviorHP:0000708
  • DementiaHP:0000726
  • Diabetes mellitusHP:0000819
  • Distal amyotrophyHP:0003693
  • Frontotemporal dementiaHP:0002145
  • Hand tremorHP:0002378
  • Impaired vibratory sensationHP:0002495
  • Pes cavusHP:0001761
  • Saccadic smooth pursuit interruptionsHP:0001152
  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328