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12q14 microdeletion syndrome

ORPHA:94063 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(8)

  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • Mild intellectual disabilityHP:0001256
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(3)

  • Hyperpigmentation of the skinHP:0000953
  • OsteopoikilosisHP:0010739
  • TremorHP:0001337

Occasional (29-5%)(26)

  • Abnormal nostril morphologyHP:0005288
  • Abnormality of the spleenHP:0001743
  • Chiari malformationHP:0002308
  • Clinodactyly of the 5th fingerHP:0004209
  • Deeply set eyeHP:0000490
  • Diabetes mellitusHP:0000819
  • Downturned corners of mouthHP:0002714
  • Ectopic kidneyHP:0000086
  • Frontal bossingHP:0002007
  • Horseshoe kidneyHP:0000085
  • HypodontiaHP:0000668
  • HypotoniaHP:0001252
  • Intestinal malrotationHP:0002566
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Prominent nasal bridgeHP:0000426
  • Renal hypoplasiaHP:0000089
  • ScoliosisHP:0002650
  • Skeletal muscle atrophyHP:0003202
  • Subcutaneous noduleHP:0001482
  • SynophrysHP:0000664
  • SyringomyeliaHP:0003396
  • Thick eyebrowHP:0000574
  • Thin vermilion borderHP:0000233
  • Triangular faceHP:0000325
  • Wide noseHP:0000445