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8q22.1 microdeletion syndrome

ORPHA:178303 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(17)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal hair patternHP:0010720
  • Abnormal pinna morphologyHP:0000377
  • BlepharophimosisHP:0000581
  • Conspicuously happy dispositionHP:0100024
  • CryptorchidismHP:0000028
  • Depressed nasal ridgeHP:0000457
  • Highly arched eyebrowHP:0002553
  • Lack of skin elasticityHP:0100679
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Mask-like faciesHP:0000298
  • Skin dimpleHP:0010781
  • Sparse eyebrowHP:0045075
  • TelecanthusHP:0000506
  • Underfolded helixHP:0008577
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(10)

  • Abnormality of the dentitionHP:0000164
  • Camptodactyly of fingerHP:0100490
  • Global developmental delayHP:0001263
  • HypogonadismHP:0000135
  • Hypoplasia of the maxillaHP:0000327
  • Limitation of joint mobilityHP:0001376
  • MicrocephalyHP:0000252
  • Sandal gapHP:0001852
  • Short neckHP:0000470
  • Wide intermamillary distanceHP:0006610

Occasional (29-5%)(5)

  • Abnormal nostril morphologyHP:0005288
  • CraniosynostosisHP:0001363
  • Finger syndactylyHP:0006101
  • Sparse eyelashesHP:0000653
  • Submucous cleft hard palateHP:0000176