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16q24.3 microdeletion syndrome

ORPHA:261250 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(3)

  • AutismHP:0000717
  • High foreheadHP:0000348
  • Protruding earHP:0000411

Frequent (79-30%)(14)

  • ColpocephalyHP:0030048
  • Frontal bossingHP:0002007
  • High palateHP:0000218
  • Hypoplasia of the corpus callosumHP:0002079
  • Long philtrumHP:0000343
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • Optic nerve hypoplasiaHP:0000609
  • Periventricular heterotopiaHP:0007165
  • Pointed chinHP:0000307
  • SeizureHP:0001250
  • Smooth philtrumHP:0000319
  • VentriculomegalyHP:0002119
  • Wide mouthHP:0000154

Occasional (29-5%)(30)

  • Abnormal hair patternHP:0010720
  • Anteverted naresHP:0000463
  • AstigmatismHP:0000483
  • Biparietal narrowingHP:0004422
  • Chronic otitis mediaHP:0000389
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Dilated cardiomyopathyHP:0001644
  • DysphagiaHP:0002015
  • Feeding difficultiesHP:0011968
  • Hearing impairmentHP:0000365
  • Highly arched eyebrowHP:0002553
  • Hip dysplasiaHP:0001385
  • Increased mean corpuscular volumeHP:0005518
  • KyphosisHP:0002808
  • Long faceHP:0000276
  • Mitral regurgitationHP:0001653
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Preauricular skin tagHP:0000384
  • Proximal placement of thumbHP:0009623
  • ScoliosisHP:0002650
  • Solitary median maxillary central incisorHP:0006315
  • StrabismusHP:0000486
  • Thick vermilion borderHP:0012471
  • ThrombocytopeniaHP:0001873
  • Triangular faceHP:0000325
  • Upslanted palpebral fissureHP:0000582
  • Ventricular septal defectHP:0001629
  • Visual impairmentHP:0000505