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X-linked intellectual disability, Van Esch type

ORPHA:163976 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(17)

  • Absence of secondary sex characteristicsHP:0008187
  • Attention deficit hyperactivity disorderHP:0007018
  • CryptorchidismHP:0000028
  • Decreased testicular sizeHP:0008734
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Hypergonadotropic hypogonadismHP:0000815
  • Intrauterine growth retardationHP:0001511
  • Male hypogonadismHP:0000026
  • MicrocephalyHP:0000252
  • MicrotiaHP:0008551
  • Mild intellectual disabilityHP:0001256
  • Reduced social responsivenessHP:0012760
  • Retractile testisHP:0012646
  • RetrognathiaHP:0000278
  • Short statureHP:0004322
  • Type II diabetes mellitusHP:0005978

Frequent (79-30%)(2)

  • Decreased serum testosterone concentrationHP:0040171
  • Increased circulating gonadotropin levelHP:0000837

Occasional (29-5%)(2)

  • Clinodactyly of the 5th fingerHP:0004209
  • Coronal craniosynostosisHP:0004440