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Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

ORPHA:363400 · Disease · Disorder

HPO 表現型（共 37 項）

Obligate (100%)(1)

  • Progressive encephalopathyHP:0002448

Very frequent (99-80%)(7)

  • Cognitive impairmentHP:0100543
  • Generalized lipodystrophyHP:0009064
  • HyperinsulinemiaHP:0000842
  • Insulin resistanceHP:0000855
  • Progressive psychomotor deteriorationHP:0007272
  • Reduced intraabdominal adipose tissueHP:0025128
  • Reduced subcutaneous adipose tissueHP:0003758

Frequent (79-30%)(14)

  • Abnormal pyramidal signHP:0007256
  • AtaxiaHP:0001251
  • Brisk reflexesHP:0001348
  • Coarse facial featuresHP:0000280
  • Delayed speech and language developmentHP:0000750
  • Hepatic steatosisHP:0001397
  • HyperreflexiaHP:0001347
  • HypertriglyceridemiaHP:0002155
  • MyoclonusHP:0001336
  • Poor motor coordinationHP:0002275
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • SpasticityHP:0001257
  • TremorHP:0001337

Occasional (29-5%)(14)

  • Acanthosis nigricansHP:0000956
  • Caudate atrophyHP:0002340
  • Cerebral atrophyHP:0002059
  • CirrhosisHP:0001394
  • Gait ataxiaHP:0002066
  • Generalized hirsutismHP:0002230
  • HepatomegalyHP:0002240
  • HyperactivityHP:0000752
  • HypertensionHP:0000822
  • Limb dystoniaHP:0002451
  • MyopathyHP:0003198
  • Neuronal loss in central nervous systemHP:0002529
  • Respiratory failureHP:0002878
  • TetraparesisHP:0002273

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

  • Status epilepticusHP:0002133