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Pseudoprogeria syndrome

ORPHA:2985 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Obligate (100%)(3)

  • Absent eyebrowHP:0002223
  • Absent eyelashesHP:0000561
  • Intellectual disabilityHP:0001249

Very frequent (99-80%)(17)

  • AlopeciaHP:0001596
  • Bird-like faciesHP:0000320
  • Convex nasal ridgeHP:0000444
  • Cranium bifidum occultumHP:0004423
  • Decreased body weightHP:0004325
  • Failure to thriveHP:0001508
  • GlaucomaHP:0000501
  • Growth delayHP:0001510
  • Joint stiffnessHP:0001387
  • MicrocephalyHP:0000252
  • Narrow nasal tipHP:0011832
  • Progressive spastic quadriplegiaHP:0002478
  • Short statureHP:0004322
  • Sparse eyebrowHP:0045075
  • Sparse hairHP:0008070
  • Spinal arachnoid cystHP:0009745
  • Thin skinHP:0000963