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Xq12-q13.3 duplication syndrome

ORPHA:314389 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(35)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • Abnormality of visual evoked potentialsHP:0000649
  • AgitationHP:0000713
  • Anterior creases of earlobeHP:0009908
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • BulimiaHP:0100739
  • Cleft earlobeHP:0011265
  • CryptorchidismHP:0000028
  • Cutaneous finger syndactylyHP:0010554
  • Decreased circulating alkaline phosphatase activityHP:0003282
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal bridgeHP:0005280
  • Eczematoid dermatitisHP:0000964
  • Elevated circulating creatine kinase activityHP:0003236
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Generalized amyotrophyHP:0003700
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotoniaHP:0001252
  • HypsarrhythmiaHP:0002521
  • Impaired pain sensationHP:0007328
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Moderate global developmental delayHP:0011343
  • Numerous neviHP:0001054
  • Optic disc pallorHP:0000543
  • Pectus excavatumHP:0000767
  • Short statureHP:0004322
  • Triangular faceHP:0000325
  • VentriculomegalyHP:0002119

Frequent (79-30%)(2)

  • Generalized myoclonic seizureHP:0002123
  • Recurrent upper respiratory tract infectionsHP:0002788