← 返回搜尋

Hall-Riggs syndrome

ORPHA:2107 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(9)

  • Absent speechHP:0001344
  • Anteverted naresHP:0000463
  • EpicanthusHP:0000286
  • MicrocephalyHP:0000252
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Thick vermilion borderHP:0012471
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(17)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • BrachydactylyHP:0001156
  • Coarse hairHP:0002208
  • Delayed skeletal maturationHP:0002750
  • Downturned corners of mouthHP:0002714
  • Failure to thriveHP:0001508
  • HypertelorismHP:0000316
  • Limb undergrowthHP:0009826
  • Nausea and vomitingHP:0002017
  • PlatyspondylyHP:0000926
  • Prominent noseHP:0000448
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Slow-growing hairHP:0002217
  • Thick hairHP:0100874
  • Wide mouthHP:0000154

Occasional (29-5%)(3)

  • Abnormal dental enamel morphologyHP:0000682
  • Delayed eruption of teethHP:0000684
  • Joint stiffnessHP:0001387