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Sjögren-Larsson syndrome

ORPHA:816 · Disease · Disorder

HPO 表現型（共 88 項）

Very frequent (99-80%)(7)

  • Dry skinHP:0000958
  • ErythemaHP:0010783
  • Generalized ichthyosisHP:0007503
  • HyperkeratosisHP:0000962
  • Intellectual disabilityHP:0001249
  • Spastic diplegiaHP:0001264
  • SpasticityHP:0001257

Frequent (79-30%)(10)

  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebral dysmyelinationHP:0007266
  • CNS demyelinationHP:0007305
  • Delayed CNS myelinationHP:0002188
  • PhotophobiaHP:0000613
  • Pigmentary retinopathyHP:0000580
  • PruritusHP:0000989
  • Retinal crystalsHP:0030507
  • SeizureHP:0001250
  • Yellow/white retinal lesionHP:0030506

Occasional (29-5%)(17)

  • Abnormal foot morphologyHP:0001760
  • Abnormal metabolic brain imaging by MRSHP:0012705
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Hyperactive deep tendon reflexesHP:0006801
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • HypohidrosisHP:0000966
  • Lower-limb joint contractureHP:0005750
  • MyopiaHP:0000545
  • Pes planusHP:0001763
  • Poor speechHP:0002465
  • Premature birthHP:0001622
  • Reduced visual acuityHP:0007663
  • Spastic paraparesisHP:0002313
  • Spastic paraplegiaHP:0001258
  • Spastic tetraplegiaHP:0002510

Very rare (<4-1%)(54)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the dentitionHP:0000164
  • Anal atresiaHP:0002023
  • Ankle clonusHP:0011448
  • AsthmaHP:0002099
  • Axial hypotoniaHP:0008936
  • Babinski signHP:0003487
  • BlepharitisHP:0000498
  • Brain atrophyHP:0012444
  • Carious teethHP:0000670
  • ClumsinessHP:0002312
  • Coarse facial featuresHP:0000280
  • Color vision defectHP:0000551
  • Congenital hip dislocationHP:0001374
  • ConjunctivitisHP:0000509
  • Corneal opacityHP:0007957
  • Dislocated radial headHP:0003083
  • DolichocephalyHP:0000268
  • DysphagiaHP:0002015
  • Enamel hypoplasiaHP:0006297
  • Exaggerated startle responseHP:0002267
  • Excessive salivationHP:0003781
  • Facial hypotoniaHP:0000297
  • Fundus hypopigmentationHP:0007894
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • KyphoscoliosisHP:0002751
  • KyphosisHP:0002808
  • Lateral ventricle dilatationHP:0006956
  • Long eyelashesHP:0000527
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • Macular degenerationHP:0000608
  • MicrocephalyHP:0000252
  • MyoclonusHP:0001336
  • Neonatal sepsisHP:0040187
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Pericallosal lipomaHP:0006931
  • PneumoniaHP:0002090
  • Progressive neurologic deteriorationHP:0002344
  • ProptosisHP:0000520
  • Pseudobulbar paralysisHP:0007024
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Short 5th fingerHP:0009237
  • Short metatarsalHP:0010743
  • StrabismusHP:0000486
  • Unilateral cryptorchidismHP:0012741
  • Unilateral renal hypoplasiaHP:0012583
  • Unusual fungal nail infectionHP:0012203
  • Urinary incontinenceHP:0000020
  • Ventricular septal defectHP:0001629