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9q21.13 microdeletion syndrome

ORPHA:531151 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(5)

  • Abnormal heart morphologyHP:0001627
  • CryptorchidismHP:0000028
  • Gait disturbanceHP:0001288
  • Gastrointestinal dysmotilityHP:0002579
  • HydronephrosisHP:0000126

Frequent (79-30%)(13)

  • Abnormal tongue morphologyHP:0030809
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Delayed speech and language developmentHP:0000750
  • Downturned corners of mouthHP:0002714
  • Hip dysplasiaHP:0001385
  • Inverted nipplesHP:0003186
  • Long palpebral fissureHP:0000637
  • Postnatal growth retardationHP:0008897
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • TalipesHP:0001883
  • Vertebral segmentation defectHP:0003422
  • Wide nasal ridgeHP:0012811

Occasional (29-5%)(6)

  • Autistic behaviorHP:0000729
  • CraniosynostosisHP:0001363
  • Gray matter heterotopiaHP:0002282
  • PolydactylyHP:0010442
  • SeizureHP:0001250
  • SyringomyeliaHP:0003396