← 返回搜尋

Lamb-Shaffer syndrome

ORPHA:530983 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Delayed ability to walkHP:0031936
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(4)

  • Delayed speech and language developmentHP:0000750
  • HypotoniaHP:0001252
  • Mild intellectual disabilityHP:0001256
  • StrabismusHP:0000486

Occasional (29-5%)(21)

  • Abnormal social behaviorHP:0012433
  • Abnormal temper tantrumsHP:0025160
  • AtaxiaHP:0001251
  • Autistic behaviorHP:0000729
  • Broad nasal tipHP:0000455
  • Decreased head circumferenceHP:0040195
  • EpicanthusHP:0000286
  • Feeding difficultiesHP:0011968
  • Fused cervical vertebraeHP:0002949
  • HyperactivityHP:0000752
  • Long faceHP:0000276
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Mild postnatal growth retardationHP:0001530
  • Motor stereotypyHP:0000733
  • Optic atrophyHP:0000648
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short chinHP:0000331
  • Thick vermilion borderHP:0012471
  • Upper motor neuron dysfunctionHP:0002493

Very rare (<4-1%)(4)

  • AmblyopiaHP:0000646
  • Cerebral visual impairmentHP:0100704
  • Hip dysplasiaHP:0001385
  • Thoracic kyphosisHP:0002942