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20q11.2 microduplication syndrome

ORPHA:363659 · Malformation syndrome · Disorder

HPO 表現型（共 53 項）

Frequent (79-30%)(28)

  • Bifid scrotumHP:0000048
  • Coarse facial featuresHP:0000280
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • Full cheeksHP:0000293
  • Gingival overgrowthHP:0000212
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • High myopiaHP:0011003
  • MicrocephalyHP:0000252
  • MicrotiaHP:0008551
  • Moderate intellectual disabilityHP:0002342
  • Palpebral edemaHP:0100540
  • Periorbital edemaHP:0100539
  • Posteriorly rotated earsHP:0000358
  • Prominent metopic ridgeHP:0005487
  • ProptosisHP:0000520
  • RetrognathiaHP:0000278
  • Short footHP:0001773
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Tented philtrumHP:0011825
  • Tented upper lip vermilionHP:0010804
  • Underdeveloped supraorbital ridgesHP:0009891
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(25)

  • Abnormal nasal bridge morphologyHP:0000422
  • Abnormal oral frenulum morphologyHP:0000190
  • Abnormal shape of the palpebral fissureHP:0200005
  • Anteverted naresHP:0000463
  • BrachycephalyHP:0000248
  • Clinodactyly of the 5th fingerHP:0004209
  • Deep palmar creaseHP:0006191
  • Downslanted palpebral fissuresHP:0000494
  • Inguinal herniaHP:0000023
  • Limited elbow extensionHP:0001377
  • Lingual dystoniaHP:0031008
  • MicropenisHP:0000054
  • Narrow foreheadHP:0000341
  • NystagmusHP:0000639
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • PtosisHP:0000508
  • Sacral dimpleHP:0000960
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Severe intrauterine growth retardationHP:0008846
  • Short attention spanHP:0000736
  • Thickened earsHP:0009894
  • Triangular faceHP:0000325
  • TrigonocephalyHP:0000243