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Multiple sulfatase deficiency

ORPHA:585 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(11)

  • Abnormality of peripheral nerve conductionHP:0003134
  • Developmental regressionHP:0002376
  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • IchthyosisHP:0008064
  • Intellectual disabilityHP:0001249
  • MucopolysacchariduriaHP:0008155
  • Neonatal hypotoniaHP:0001319
  • Rapid neurologic deteriorationHP:0007307
  • SplenomegalyHP:0001744
  • Visual impairmentHP:0000505

Frequent (79-30%)(18)

  • Abnormal retinal pigmentationHP:0007703
  • Anteverted naresHP:0000463
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • CataractHP:0000518
  • Coarse facial featuresHP:0000280
  • Coarse hairHP:0002208
  • Corneal opacityHP:0007957
  • Depressed nasal bridgeHP:0005280
  • HydrocephalusHP:0000238
  • Joint stiffnessHP:0001387
  • MacrocephalyHP:0000256
  • Optic atrophyHP:0000648
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Smooth philtrumHP:0000319
  • Thick eyebrowHP:0000574

Occasional (29-5%)(1)

  • MicrocephalyHP:0000252