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19p13.12 microdeletion syndrome

ORPHA:254346 · Malformation syndrome · Disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(2)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263

Frequent (79-30%)(23)

  • Abnormal pinna morphologyHP:0000377
  • Anteverted naresHP:0000463
  • ArrhythmiaHP:0011675
  • Atrial septal defectHP:0001631
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Clinodactyly of the 5th fingerHP:0004209
  • EpicanthusHP:0000286
  • HyperactivityHP:0000752
  • HypodontiaHP:0000668
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Narrow nasal bridgeHP:0000446
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short neckHP:0000470
  • Short palmHP:0004279
  • SynophrysHP:0000664
  • Thin vermilion borderHP:0000233
  • VentriculomegalyHP:0002119

Occasional (29-5%)(30)

  • Aortic regurgitationHP:0001659
  • Aplasia/Hypoplasia of the cerebellar vermisHP:0006817
  • Arthrogryposis multiplex congenitaHP:0002804
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Deep palmar creaseHP:0006191
  • Deep plantar creasesHP:0001869
  • Finger syndactylyHP:0006101
  • Generalized hirsutismHP:0002230
  • Hepatic steatosisHP:0001397
  • HyperlipidemiaHP:0003077
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • HypospadiasHP:0000047
  • HypothyroidismHP:0000821
  • KyphosisHP:0002808
  • Long philtrumHP:0000343
  • Mitral regurgitationHP:0001653
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • ObesityHP:0001513
  • Precocious pubertyHP:0000826
  • ProptosisHP:0000520
  • Sandal gapHP:0001852
  • Self-injurious behaviorHP:0100716
  • StrabismusHP:0000486
  • Toe clinodactylyHP:0001863
  • Ventricular septal defectHP:0001629