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X-linked intellectual disability, Cilliers type

ORPHA:163971 · Disease · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(20)

  • Abnormal facial shapeHP:0001999
  • Absence of secondary sex characteristicsHP:0008187
  • Clinodactyly of the 5th fingerHP:0004209
  • Coronal craniosynostosisHP:0004440
  • CryptorchidismHP:0000028
  • Decreased serum testosterone concentrationHP:0040171
  • Decreased testicular sizeHP:0008734
  • Deeply set eyeHP:0000490
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Hypergonadotropic hypogonadismHP:0000815
  • Increased circulating gonadotropin levelHP:0000837
  • MacrotiaHP:0000400
  • Male hypogonadismHP:0000026
  • Mild intellectual disabilityHP:0001256
  • Prominent nasal bridgeHP:0000426
  • Prominent supraorbital ridgesHP:0000336
  • Short statureHP:0004322
  • Small handHP:0200055
  • Small nailHP:0001792

Frequent (79-30%)(1)

  • MicrocephalyHP:0000252

Occasional (29-5%)(4)

  • Excessive shynessHP:0100962
  • HypospadiasHP:0000047
  • ParanoiaHP:0011999
  • PsychosisHP:0000709