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Distal Xq28 microduplication syndrome

ORPHA:293939 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(38)

  • Abnormal central sensory functionHP:0011730
  • Absent antihelixHP:0011234
  • Aggressive behaviorHP:0000718
  • AnxietyHP:0000739
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • ArthralgiaHP:0002829
  • AsthmaHP:0002099
  • Attention deficit hyperactivity disorderHP:0007018
  • Autistic behaviorHP:0000729
  • Broad nasal tipHP:0000455
  • Deeply set eyeHP:0000490
  • Delayed fine motor developmentHP:0010862
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • DepressionHP:0000716
  • EpistaxisHP:0000421
  • Generalized muscle weaknessHP:0003324
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • High palateHP:0000218
  • Hypoplasia of the maxillaHP:0000327
  • ImpulsivityHP:0100710
  • Intellectual disabilityHP:0001249
  • Metatarsus adductusHP:0001840
  • MicrocephalyHP:0000252
  • MicrotiaHP:0008551
  • Neonatal hyperbilirubinemiaHP:0003265
  • Open mouthHP:0000194
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Reduced eye contactHP:0000817
  • Short lingual frenulumHP:0000200
  • Short statureHP:0004322
  • Stereotypical body rockingHP:0012172
  • Thick lower lip vermilionHP:0000179
  • Tip-toe gaitHP:0030051
  • Upper eyelid edemaHP:0012724

Frequent (79-30%)(3)

  • ClinodactylyHP:0030084
  • Predominantly lower limb lymphedemaHP:0003550
  • Self-bitingHP:0012169

Occasional (29-5%)(2)

  • Cafe-au-lait spotHP:0000957
  • HypothyroidismHP:0000821