← 返回搜尋

Pallister-Killian syndrome

ORPHA:884 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(18)

  • CachexiaHP:0004326
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • Diminished deep tendon reflexHP:0001315
  • Downturned corners of mouthHP:0002714
  • Everted lower lip vermilionHP:0000232
  • HypohidrosisHP:0000966
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • PtosisHP:0000508
  • Severe intellectual disabilityHP:0010864
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Sparse eyebrowHP:0045075
  • Sparse hairHP:0008070
  • Thick upper lip vermilionHP:0000215
  • Thin upper lip vermilionHP:0000219

Frequent (79-30%)(8)

  • Anteverted naresHP:0000463
  • Coarse facial featuresHP:0000280
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Prominent foreheadHP:0011220
  • Short noseHP:0003196
  • TelecanthusHP:0000506
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(3)

  • Abnormal soft palate morphologyHP:0100736
  • Anal atresiaHP:0002023
  • StrabismusHP:0000486