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10q22.3q23.3 microdeletion syndrome

ORPHA:276413 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(4)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Language impairmentHP:0002463
  • MacrocephalyHP:0000256

Frequent (79-30%)(3)

  • Depressed nasal bridgeHP:0005280
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369

Occasional (29-5%)(23)

  • Anteverted naresHP:0000463
  • ArachnodactylyHP:0001166
  • Atrioventricular canal defectHP:0006695
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Breast aplasiaHP:0100783
  • Cerebellar hypoplasiaHP:0001321
  • Chiari malformationHP:0002308
  • Curved middle phalanx of the 4th toeHP:0100444
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • HypotelorismHP:0000601
  • Intestinal polyposisHP:0200008
  • Joint hypermobilityHP:0001382
  • MicrocephalyHP:0000252
  • MicroretrognathiaHP:0000308
  • Patent ductus arteriosusHP:0001643
  • SeizureHP:0001250
  • TalipesHP:0001883
  • Tricuspid valve prolapseHP:0001704
  • Upslanted palpebral fissureHP:0000582