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Cataract-deafness-hypogonadism syndrome

ORPHA:1383 · Malformation syndrome · Disorder

HPO 表現型(共 6 項)

Frequent (79-30%)(6)

  • Developmental cataractHP:0000519
  • Generalized hypertrichosisHP:0004554
  • HypogonadismHP:0000135
  • Mild intellectual disabilityHP:0001256
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322