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Mosaic trisomy 8 syndrome

ORPHA:96061 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(1)

  • Moderate intellectual disabilityHP:0002342

Frequent (79-30%)(27)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal pinna morphologyHP:0000377
  • Abnormal rib morphologyHP:0000772
  • Anteverted naresHP:0000463
  • Broad nasal tipHP:0000455
  • Camptodactyly of fingerHP:0100490
  • Corneal opacityHP:0007957
  • Deep palmar creaseHP:0006191
  • Deep plantar creasesHP:0001869
  • Deeply set eyeHP:0000490
  • DolichocephalyHP:0000268
  • Frontal bossingHP:0002007
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • Limitation of joint mobilityHP:0001376
  • Long faceHP:0000276
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • Narrow chestHP:0000774
  • Narrow pelvis boneHP:0003275
  • Patellar aplasiaHP:0006443
  • Protruding earHP:0000411
  • ScoliosisHP:0002650
  • StrabismusHP:0000486
  • Vertebral segmentation defectHP:0003422
  • Vesicoureteral refluxHP:0000076
  • Wide noseHP:0000445

Occasional (29-5%)(14)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Agenesis of corpus callosumHP:0001274
  • Arthrogryposis multiplex congenitaHP:0002804
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Decreased testicular sizeHP:0008734
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hypopigmentation of the skinHP:0001010
  • Hypopigmented skin patchesHP:0001053
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Tall statureHP:0000098