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Ramon syndrome

ORPHA:3019 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(7)

  • Failure to thriveHP:0001508
  • Full cheeksHP:0000293
  • Gingival fibromatosisHP:0000169
  • Intellectual disabilityHP:0001249
  • Narrow palateHP:0000189
  • OsteolysisHP:0002797
  • SeizureHP:0001250

Frequent (79-30%)(3)

  • Abnormal retinal pigmentationHP:0007703
  • Delayed eruption of teethHP:0000684
  • Generalized hirsutismHP:0002230

Occasional (29-5%)(7)

  • Abnormal anterior chamber morphologyHP:0000593
  • Abnormal dental enamel morphologyHP:0000682
  • Conductive hearing impairmentHP:0000405
  • Diabetes mellitusHP:0000819
  • HyperkeratosisHP:0000962
  • Sensorineural hearing impairmentHP:0000407
  • Telangiectasia of the skinHP:0100585