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17q23.1q23.2 microdeletion syndrome

ORPHA:261279 · Malformation syndrome · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(5)

  • Delayed speech and language developmentHP:0000750
  • Long fingersHP:0100807
  • Long toeHP:0010511
  • Mild global developmental delayHP:0011342
  • Moderate global developmental delayHP:0011343

Frequent (79-30%)(6)

  • Frontal bossingHP:0002007
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Patent ductus arteriosusHP:0001643
  • Pulmonary arterial hypertensionHP:0002092
  • Short statureHP:0004322

Occasional (29-5%)(35)

  • Abnormal epiphysis morphologyHP:0005930
  • Atrial septal defectHP:0001631
  • Atypical behaviorHP:0000708
  • Bifid noseHP:0011803
  • Bilateral single transverse palmar creasesHP:0007598
  • BlepharitisHP:0000498
  • Bulbous noseHP:0000414
  • Chronic otitis mediaHP:0000389
  • Clinodactyly of the 5th fingerHP:0004209
  • Congenital contractureHP:0002803
  • Coxa magnaHP:0003279
  • Depressed nasal bridgeHP:0005280
  • DyspneaHP:0002094
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • Highly arched eyebrowHP:0002553
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Limitation of joint mobilityHP:0001376
  • Long eyelashesHP:0000527
  • Malar flatteningHP:0000272
  • Narrow mouthHP:0000160
  • Patellar hypoplasiaHP:0003065
  • Pes planusHP:0001763
  • Protruding earHP:0000411
  • Sacral dimpleHP:0000960
  • Sandal gapHP:0001852
  • ScoliosisHP:0002650
  • Shallow acetabular fossaeHP:0003182
  • Shawl scrotumHP:0000049
  • StrabismusHP:0000486
  • Widely spaced teethHP:0000687