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Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

ORPHA:363700 · Etiological subtype · Subtype of disorder

HPO 表現型（共 71 項）

Very frequent (99-80%)(2)

  • Cafe-au-lait spotHP:0000957
  • HypertelorismHP:0000316

Frequent (79-30%)(22)

  • Abnormal facial shapeHP:0001999
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the skeletal systemHP:0000924
  • Attention deficit hyperactivity disorderHP:0007018
  • Axillary frecklingHP:0000997
  • Bone cystHP:0012062
  • Brain imaging abnormalityHP:0410263
  • Broad neckHP:0000475
  • Coarse facial featuresHP:0000280
  • HypotoniaHP:0001252
  • Inguinal frecklingHP:0030052
  • Joint hypermobilityHP:0001382
  • Large handsHP:0001176
  • Lisch nodulesHP:0009737
  • Long footHP:0001833
  • MacrocephalyHP:0000256
  • Neurodevelopmental delayHP:0012758
  • Proportionate tall statureHP:0011407
  • ScoliosisHP:0002650
  • Specific learning disabilityHP:0001328
  • Speech articulation difficultiesHP:0009088
  • Subcutaneous neurofibromaHP:0100698

Occasional (29-5%)(26)

  • Abnormal dental pulp morphologyHP:0006479
  • Abnormal renal morphologyHP:0012210
  • Abnormality of the sphenoid sinusHP:0430022
  • EpicanthusHP:0000286
  • Facial asymmetryHP:0000324
  • Genu valgumHP:0002857
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotelorismHP:0000601
  • Impaired visuospatial constructive cognitionHP:0010794
  • Intellectual disabilityHP:0001249
  • Long faceHP:0000276
  • Long philtrumHP:0000343
  • Malignant peripheral nerve sheath tumorHP:0100697
  • MicrognathiaHP:0000347
  • Narrow foreheadHP:0000341
  • Optic nerve gliomaHP:0009734
  • Pectus excavatumHP:0000767
  • Pes cavusHP:0001761
  • Prominent glabellaHP:0002057
  • Protruding earHP:0000411
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Spinal neurofibromaHP:0009735
  • Thick vermilion borderHP:0012471

Very rare (<4-1%)(21)

  • Abnormal tibia morphologyHP:0002992
  • Atrial septal defectHP:0001631
  • GranulomaHP:0032252
  • HeadacheHP:0002315
  • HemangiomaHP:0001028
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • HyperlordosisHP:0003307
  • Hypertrophic cardiomyopathyHP:0001639
  • KyphoscoliosisHP:0002751
  • Lower limb dysmetriaHP:0020035
  • MaculeHP:0012733
  • Mitral regurgitationHP:0001653
  • Mitral valve prolapseHP:0001634
  • Ossifying fibromaHP:0030426
  • Patent foramen ovaleHP:0001655
  • Pulmonic stenosisHP:0001642
  • Renal hypoplasia/aplasiaHP:0008678
  • SchwannomaHP:0100008
  • SinusitisHP:0000246
  • Ventricular septal defectHP:0001629