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Distal 22q11.2 microdeletion syndrome

ORPHA:261330 · Malformation syndrome · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(7)

  • Global developmental delayHP:0001263
  • Highly arched eyebrowHP:0002553
  • Intellectual disabilityHP:0001249
  • Language impairmentHP:0002463
  • Premature birthHP:0001622
  • Short statureHP:0004322
  • Smooth philtrumHP:0000319

Frequent (79-30%)(13)

  • Abnormal earlobe morphologyHP:0000363
  • Absent fingernailHP:0001817
  • Absent toenailHP:0001802
  • Clinodactyly of the 5th fingerHP:0004209
  • Deeply set eyeHP:0000490
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • NeoplasmHP:0002664
  • Pes planusHP:0001763
  • Pointed chinHP:0000307
  • Thin upper lip vermilionHP:0000219
  • Truncus arteriosusHP:0001660
  • Underdeveloped nasal alaeHP:0000430

Occasional (29-5%)(40)

  • AnkyloglossiaHP:0010296
  • Aortic aneurysmHP:0004942
  • Aortic regurgitationHP:0001659
  • ArachnodactylyHP:0001166
  • Atrial septal defectHP:0001631
  • Attention deficit hyperactivity disorderHP:0007018
  • BlepharophimosisHP:0000581
  • Bowel incontinenceHP:0002607
  • Bowing of the long bonesHP:0006487
  • Branchial fistulaHP:0009795
  • Camptodactyly of fingerHP:0100490
  • Choanal atresiaHP:0000453
  • Cleft palateHP:0000175
  • Compulsive behaviorsHP:0000722
  • Coxa valgaHP:0002673
  • DepressionHP:0000716
  • Facial asymmetryHP:0000324
  • Growth delayHP:0001510
  • High, narrow palateHP:0002705
  • HyperlordosisHP:0003307
  • ImmunodeficiencyHP:0002721
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Long faceHP:0000276
  • Malar flatteningHP:0000272
  • Narrow mouthHP:0000160
  • Oculomotor apraxiaHP:0000657
  • Prominent nasal bridgeHP:0000426
  • Pyloric stenosisHP:0002021
  • Recurrent respiratory infectionsHP:0002205
  • Recurrent urinary tract infectionsHP:0000010
  • Sandal gapHP:0001852
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short distal phalanx of fingerHP:0009882
  • Short palmHP:0004279
  • TicsHP:0100033
  • Toe syndactylyHP:0001770
  • Ulnar deviation of fingerHP:0009465
  • Ventricular septal defectHP:0001629