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X-linked intellectual disability-short stature-overweight syndrome

ORPHA:457240 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Frequent (79-30%)(9)

  • Atypical behaviorHP:0000708
  • Delayed speech and language developmentHP:0000750
  • High palateHP:0000218
  • HypotoniaHP:0001252
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • OverweightHP:0025502
  • Short statureHP:0004322
  • TremorHP:0001337

Occasional (29-5%)(28)

  • AnxietyHP:0000739
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Broad foreheadHP:0000337
  • Cerebellar dysplasiaHP:0007033
  • Cranial hyperostosisHP:0004437
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased testicular sizeHP:0008734
  • DepressionHP:0000716
  • Gait disturbanceHP:0001288
  • GliosisHP:0002171
  • High foreheadHP:0000348
  • Hip dysplasiaHP:0001385
  • Hyperkinetic movementsHP:0002487
  • HypertelorismHP:0000316
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • MicropenisHP:0000054
  • Motor stereotypyHP:0000733
  • Myocardial infarctionHP:0001658
  • NystagmusHP:0000639
  • Pulmonary fibrosisHP:0002206
  • SeizureHP:0001250
  • Self-mutilationHP:0000742
  • Severe intellectual disabilityHP:0010864
  • Single transverse palmar creaseHP:0000954
  • StrabismusHP:0000486
  • Upper limb spasticityHP:0006986