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3q29 microduplication syndrome

ORPHA:251038 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Frequent (79-30%)(7)

  • Abnormality of the dentitionHP:0000164
  • Downslanted palpebral fissuresHP:0000494
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • ObesityHP:0001513

Occasional (29-5%)(23)

  • AniridiaHP:0000526
  • Biparietal narrowingHP:0004422
  • Camptodactyly of toeHP:0001836
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • CraniosynostosisHP:0001363
  • Deep philtrumHP:0002002
  • Ectopic anusHP:0004397
  • Hearing impairmentHP:0000365
  • High foreheadHP:0000348
  • High palateHP:0000218
  • Iris colobomaHP:0000612
  • Large fontanellesHP:0000239
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • MicrophthalmiaHP:0000568
  • Sandal gapHP:0001852
  • SclerocorneaHP:0000647
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629
  • Wide nasal bridgeHP:0000431