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X-linked skeletal dysplasia-intellectual disability syndrome

ORPHA:1436 · Malformation syndrome · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(7)

  • Abnormal sacrum morphologyHP:0005107
  • BrachydactylyHP:0001156
  • Fused cervical vertebraeHP:0002949
  • ScoliosisHP:0002650
  • Short middle phalanx of fingerHP:0005819
  • Short statureHP:0004322
  • Thoracic hemivertebraeHP:0008467

Frequent (79-30%)(1)

  • Type II diabetes mellitusHP:0005978

Occasional (29-5%)(1)

  • Anal atresiaHP:0002023