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Hydrocephalus-obesity-hypogonadism syndrome

ORPHA:2183 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Obligate (100%)(12)

  • Cubitus valgusHP:0002967
  • GynecomastiaHP:0000771
  • High, narrow palateHP:0002705
  • HydrocephalusHP:0000238
  • Hypergonadotropic hypogonadismHP:0000815
  • Low posterior hairlineHP:0002162
  • Mild intellectual disabilityHP:0001256
  • Mitral valve prolapseHP:0001634
  • ObesityHP:0001513
  • Short 4th metacarpalHP:0010044
  • Short neckHP:0000470
  • Short statureHP:0004322

Frequent (79-30%)(4)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • Absent facial hairHP:0002550
  • AzoospermiaHP:0000027
  • Sparse facial hairHP:0007464