← 返回搜尋

HIDEA syndrome

ORPHA:436141 · Malformation syndrome · Disorder

HPO 表現型（共 11 項）

Obligate (100%)(7)

  • Abnormality of the ankleHP:0003028
  • Coarse facial featuresHP:0000280
  • Finger joint hypermobilityHP:0006094
  • Genu valgumHP:0002857
  • HypotoniaHP:0001252
  • Severe intellectual disabilityHP:0010864
  • StrabismusHP:0000486

Very frequent (99-80%)(1)

  • ObesityHP:0001513

Frequent (79-30%)(3)

  • Gait disturbanceHP:0001288
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360