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Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

ORPHA:2234 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(12)

  • Abnormal vertebral body morphologyHP:0003312
  • Atypical behaviorHP:0000708
  • Decreased fertilityHP:0000144
  • Decreased testicular sizeHP:0008734
  • Eunuchoid habitusHP:0003782
  • GynecomastiaHP:0000771
  • HemivertebraeHP:0002937
  • HypogonadismHP:0000135
  • Hypoplasia of penisHP:0008736
  • Intellectual disabilityHP:0001249
  • Small scrotumHP:0000046
  • Type II diabetes mellitusHP:0005978

Frequent (79-30%)(7)

  • Abnormal rib morphologyHP:0000772
  • Abnormality of the humeroulnar jointHP:0100745
  • Abnormality of the thyroid glandHP:0000820
  • ObesityHP:0001513
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Sparse body hairHP:0002231