← 返回搜尋

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

ORPHA:2233 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(13)

  • Abnormal hair quantityHP:0011362
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal morphology of ulnaHP:0040071
  • Abnormal testis morphologyHP:0000035
  • Decreased fertilityHP:0000144
  • GynecomastiaHP:0000771
  • High palateHP:0000218
  • HypogonadismHP:0000135
  • Low posterior hairlineHP:0002162
  • Mild intellectual disabilityHP:0001256
  • ObesityHP:0001513
  • Short neckHP:0000470
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • Downslanted palpebral fissuresHP:0000494
  • Mitral valve prolapseHP:0001634