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Björnstad syndrome

ORPHA:123 · Disease · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(6)

  • AlopeciaHP:0001596
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Brittle hairHP:0002299
  • Pili tortiHP:0003777
  • Sensorineural hearing impairmentHP:0000407
  • Sparse body hairHP:0002231

Frequent (79-30%)(4)

  • Abnormal testis morphologyHP:0000035
  • Abnormality of the eyeHP:0000478
  • Fine hairHP:0002213
  • Hypoplasia of penisHP:0008736

Occasional (29-5%)(2)

  • HypogonadismHP:0000135
  • Intellectual disabilityHP:0001249