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Distal duplication 6p syndrome

ORPHA:1745 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(17)

  • Abnormal eyelash morphologyHP:0000499
  • Abnormal hair quantityHP:0011362
  • Abnormality of chromosome segregationHP:0002916
  • BlepharophimosisHP:0000581
  • Dry skinHP:0000958
  • Fine hairHP:0002213
  • Global developmental delayHP:0001263
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • Pointed chinHP:0000307
  • Prominent nasal bridgeHP:0000426
  • PtosisHP:0000508
  • Sacral dimpleHP:0000960
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(7)

  • Abnormal antitragus morphologyHP:0009896
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • Frontal bossingHP:0002007
  • Long thoraxHP:0100818
  • Low-set earsHP:0000369
  • NystagmusHP:0000639
  • StrabismusHP:0000486

Occasional (29-5%)(9)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal lung lobationHP:0002101
  • Abnormality of the urinary systemHP:0000079
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • CataractHP:0000518
  • HerniaHP:0100790
  • HydronephrosisHP:0000126
  • Renal hypoplasiaHP:0000089
  • Wide intermamillary distanceHP:0006610