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B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

ORPHA:75496 · Clinical subtype · Subtype of disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(21)

  • Aortic valve stenosisHP:0001650
  • ArachnodactylyHP:0001166
  • CryptorchidismHP:0000028
  • Cutis laxaHP:0000973
  • EpicanthusHP:0000286
  • Flexion contractureHP:0001371
  • GingivitisHP:0000230
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hyperextensible skinHP:0000974
  • HypotoniaHP:0001252
  • LipodystrophyHP:0009125
  • Long toeHP:0010511
  • MacrocephalyHP:0000256
  • Palmoplantar cutis gyrataHP:0007469
  • Pes planusHP:0001763
  • Progeroid facial appearanceHP:0005328
  • Pulmonic stenosisHP:0001642
  • Short statureHP:0004322
  • Testicular torsionHP:0100813
  • Thin skinHP:0000963

Frequent (79-30%)(13)

  • Abnormal facial shapeHP:0001999
  • Abnormal skin pigmentationHP:0001000
  • Atrophic scarsHP:0001075
  • Atypical scarring of skinHP:0000987
  • Narrow mouthHP:0000160
  • OsteopeniaHP:0000938
  • Skeletal dysplasiaHP:0002652
  • Skeletal muscle atrophyHP:0003202
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Sparse scalp hairHP:0002209
  • TelecanthusHP:0000506
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(3)

  • Abnormal primary tooth morphologyHP:0006481
  • Joint hypermobilityHP:0001382
  • KyphoscoliosisHP:0002751