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Neutral lipid storage disease with ichthyosis

ORPHA:98907 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(2)

  • Congenital nonbullous ichthyosiform erythrodermaHP:0007479
  • Progressive proximal muscle weaknessHP:0009073

Frequent (79-30%)(26)

  • Abnormal circulating creatine kinase activityHP:0040081
  • Abnormal granulocyte morphologyHP:0001911
  • AlopeciaHP:0001596
  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • CardiomyopathyHP:0001638
  • EclabionHP:0012472
  • EctropionHP:0000656
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • EMG: myopathic abnormalitiesHP:0003458
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • Hepatic steatosisHP:0001397
  • HepatomegalyHP:0002240
  • HypertriglyceridemiaHP:0002155
  • Increased CSF protein concentrationHP:0002922
  • Increased intramyocellular lipid dropletsHP:0012240
  • MyopathyHP:0003198
  • NystagmusHP:0000639
  • PtosisHP:0000508
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Shoulder girdle muscle weaknessHP:0003547
  • Small earlobeHP:0000385
  • StrabismusHP:0000486
  • Subcapsular cataractHP:0000523

Occasional (29-5%)(2)

  • Central nervous system degenerationHP:0007009
  • Micronodular cirrhosisHP:0001413

Excluded (0%)(2)

  • KetosisHP:0001946
  • ObesityHP:0001513