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Distal deletion 6p syndrome

ORPHA:96125 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(6)

  • Abnormal anterior chamber morphologyHP:0000593
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • Mild intellectual disabilityHP:0001256

Frequent (79-30%)(22)

  • Abnormality of the dentitionHP:0000164
  • Anterior synechiae of the anterior chamberHP:0011483
  • Anteverted naresHP:0000463
  • Atrial septal defectHP:0001631
  • Broad foreheadHP:0000337
  • Clinodactyly of the 5th fingerHP:0004209
  • Corneal opacityHP:0007957
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • GlaucomaHP:0000501
  • Hearing impairmentHP:0000365
  • High hypermetropiaHP:0008499
  • Hypoplasia of the irisHP:0007676
  • Malar flatteningHP:0000272
  • Posterior embryotoxonHP:0000627
  • Short philtrumHP:0000322
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • Underdeveloped nasal alaeHP:0000430
  • Wide noseHP:0000445

Occasional (29-5%)(11)

  • Abnormal epiphysis morphologyHP:0005930
  • Ectopia pupillaeHP:0009918
  • MicrognathiaHP:0000347
  • Orofacial cleftHP:0000202
  • ScoliosisHP:0002650
  • Self-injurious behaviorHP:0100716
  • Short footHP:0001773
  • Short palmHP:0004279
  • Talipes equinovarusHP:0001762
  • VentriculomegalyHP:0002119
  • Vertebral segmentation defectHP:0003422