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Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

ORPHA:457365 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Frequent (79-30%)(18)

  • Broad columellaHP:0010761
  • Carious teethHP:0000670
  • Deeply set eyeHP:0000490
  • Delayed skeletal maturationHP:0002750
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • EMG: myopathic abnormalitiesHP:0003458
  • Highly arched eyebrowHP:0002553
  • Intellectual disabilityHP:0001249
  • LeukoencephalopathyHP:0002352
  • Muscle weaknessHP:0001324
  • Narrow mouthHP:0000160
  • Narrow palateHP:0000189
  • Overlapping toeHP:0001845
  • Pes planusHP:0001763
  • Prominent nasal bridgeHP:0000426
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(6)

  • Blue scleraeHP:0000592
  • OphthalmoplegiaHP:0000602
  • PtosisHP:0000508
  • Short chinHP:0000331
  • Thick lower lip vermilionHP:0000179
  • TremorHP:0001337