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Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

ORPHA:404473 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(7)

  • Abnormal facial shapeHP:0001999
  • Axial hypotoniaHP:0008936
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Motor delayHP:0001270
  • Poor speechHP:0002465
  • SpasticityHP:0001257

Frequent (79-30%)(4)

  • Abnormality of the eyeHP:0000478
  • Atypical behaviorHP:0000708
  • Developmental regressionHP:0002376
  • Primary microcephalyHP:0011451

Occasional (29-5%)(19)

  • Abnormal temper tantrumsHP:0025160
  • Aggressive behaviorHP:0000718
  • Autistic behaviorHP:0000729
  • Broad nasal tipHP:0000455
  • Delayed CNS myelinationHP:0002188
  • HypermetropiaHP:0000540
  • Hypoplasia of the corpus callosumHP:0002079
  • Long philtrumHP:0000343
  • Low hanging columellaHP:0009765
  • MyopiaHP:0000545
  • Self-injurious behaviorHP:0100716
  • Sleep disturbanceHP:0002360
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • SyringomyeliaHP:0003396
  • Tethered cordHP:0002144
  • Thin upper lip vermilionHP:0000219
  • Underdeveloped nasal alaeHP:0000430
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(2)

  • Hearing impairmentHP:0000365
  • SeizureHP:0001250