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16p11.2p12.2 microdeletion syndrome

ORPHA:261211 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(7)

  • Chronic otitis mediaHP:0000389
  • Downslanted palpebral fissuresHP:0000494
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Global developmental delayHP:0001263
  • Intrauterine growth retardationHP:0001511
  • Moderate intellectual disabilityHP:0002342

Frequent (79-30%)(18)

  • Abnormal pinna morphologyHP:0000377
  • Bilateral single transverse palmar creasesHP:0007598
  • BlepharophimosisHP:0000581
  • Camptodactyly of fingerHP:0100490
  • Deeply set eyeHP:0000490
  • Delayed speech and language developmentHP:0000750
  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • Frontal bossingHP:0002007
  • HyperactivityHP:0000752
  • HypotoniaHP:0001252
  • Impaired pain sensationHP:0007328
  • Low-set earsHP:0000369
  • MicroretrognathiaHP:0000308
  • Multiple cafe-au-lait spotsHP:0007565
  • Open mouthHP:0000194
  • Short statureHP:0004322
  • Toe syndactylyHP:0001770

Occasional (29-5%)(18)

  • Absent nasal bridgeHP:0005285
  • Anteverted naresHP:0000463
  • ArrhythmiaHP:0011675
  • Bulbous noseHP:0000414
  • Hearing impairmentHP:0000365
  • High foreheadHP:0000348
  • HypotelorismHP:0000601
  • Long faceHP:0000276
  • Long noseHP:0003189
  • Orofacial cleftHP:0000202
  • Proximal placement of thumbHP:0009623
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Sleep apneaHP:0010535
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • TicsHP:0100033
  • Tricuspid regurgitationHP:0005180