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13q12.3 microdeletion syndrome

ORPHA:412035 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Frequent (79-30%)(20)

  • Atopic dermatitisHP:0001047
  • CamptodactylyHP:0012385
  • ConstipationHP:0002019
  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • HyperactivityHP:0000752
  • HypermetropiaHP:0000540
  • Impaired pain sensationHP:0007328
  • Intrauterine growth retardationHP:0001511
  • Low insertion of columellaHP:0010763
  • Malar flatteningHP:0000272
  • Moderate intellectual disabilityHP:0002342
  • OligodontiaHP:0000677
  • Recurrent respiratory infectionsHP:0002205
  • Self-mutilationHP:0000742
  • Short statureHP:0004322
  • Thin upper lip vermilionHP:0000219
  • Underdeveloped nasal alaeHP:0000430
  • Upper eyelid edemaHP:0012724
  • VomitingHP:0002013

Occasional (29-5%)(10)

  • AllergyHP:0012393
  • Chronic otitis mediaHP:0000389
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • Hearing impairmentHP:0000365
  • Hemihypotrophy of lower limbHP:0200053
  • Hip dysplasiaHP:0001385
  • KyphoscoliosisHP:0002751
  • ObesityHP:0001513
  • Obstructive sleep apneaHP:0002870