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19p13.3 microduplication syndrome

ORPHA:447980 · Malformation syndrome · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252

Frequent (79-30%)(15)

  • Absent speechHP:0001344
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • Long faceHP:0000276
  • Long fingersHP:0100807
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • Motor delayHP:0001270
  • MyopiaHP:0000545
  • Narrow mouthHP:0000160
  • Prominent noseHP:0000448
  • Short philtrumHP:0000322
  • TelecanthusHP:0000506
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(31)

  • AmblyopiaHP:0000646
  • Cerebral atrophyHP:0002059
  • Cleft palateHP:0000175
  • ClinodactylyHP:0030084
  • ConstipationHP:0002019
  • Downslanted palpebral fissuresHP:0000494
  • Episodic vomitingHP:0002572
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Gastroesophageal refluxHP:0002020
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • Hip subluxationHP:0030043
  • Horizontal nystagmusHP:0000666
  • HyperactivityHP:0000752
  • HypermetropiaHP:0000540
  • Inverted nipplesHP:0003186
  • IrritabilityHP:0000737
  • KyphoscoliosisHP:0002751
  • MicrotiaHP:0008551
  • OsteoporosisHP:0000939
  • Pes cavusHP:0001761
  • Posteriorly rotated earsHP:0000358
  • Precocious pubertyHP:0000826
  • Pulmonary arterial hypertensionHP:0002092
  • Self-injurious behaviorHP:0100716
  • Severe intellectual disabilityHP:0010864
  • Sloping foreheadHP:0000340
  • Underdeveloped nasal alaeHP:0000430
  • Unilateral cryptorchidismHP:0012741
  • Upslanted palpebral fissureHP:0000582
  • Ventricular septal defectHP:0001629