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Legius syndrome

ORPHA:137605 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(1)

  • Multiple cafe-au-lait spotsHP:0007565

Frequent (79-30%)(4)

  • Atypical behaviorHP:0000708
  • Axillary frecklingHP:0000997
  • Inguinal frecklingHP:0030052
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(6)

  • Abnormal sternum morphologyHP:0000766
  • HyperactivityHP:0000752
  • MacrocephalyHP:0000256
  • Multiple lipomasHP:0001012
  • Short attention spanHP:0000736
  • Short statureHP:0004322

Very rare (<4-1%)(26)

  • Acute monocytic leukemiaHP:0004845
  • Attention deficit hyperactivity disorderHP:0007018
  • Brain imaging abnormalityHP:0410263
  • CataractHP:0000518
  • Chiari type I malformationHP:0007099
  • Clinodactyly of the 5th fingerHP:0004209
  • Cognitive impairmentHP:0100543
  • Delayed speech and language developmentHP:0000750
  • DystoniaHP:0001332
  • Gastrointestinal desmoid tumorHP:0100245
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • Kidney stoneHP:0000787
  • Male urethral meatus stenosisHP:0032077
  • Mitral valve prolapseHP:0001634
  • Motor delayHP:0001270
  • NephroblastomaHP:0002667
  • Non-small cell lung carcinomaHP:0030358
  • Ovarian neoplasmHP:0100615
  • Paroxysmal atrial tachycardiaHP:0006671
  • PolydactylyHP:0010442
  • Pulmonic stenosisHP:0001642
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Vestibular schwannomaHP:0009588
  • XanthelasmaHP:0001114

Excluded (0%)(5)

  • Diaphyseal dysplasiaHP:0100252
  • Lisch nodulesHP:0009737
  • Neoplasm of the central nervous systemHP:0100006
  • NeurofibromaHP:0001067
  • Optic nerve gliomaHP:0009734