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Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

ORPHA:500144 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Frequent (79-30%)(18)

  • Axial hypotoniaHP:0008936
  • Cerebral cortical atrophyHP:0002120
  • Cerebral visual impairmentHP:0100704
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Gastroesophageal refluxHP:0002020
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • Hypoplasia of the optic tractHP:0007096
  • Hypoplasia of the ponsHP:0012110
  • MyoclonusHP:0001336
  • Partial agenesis of the corpus callosumHP:0001338
  • Primary microcephalyHP:0011451
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • SpasticityHP:0001257
  • VentriculomegalyHP:0002119

Occasional (29-5%)(12)

  • Agenesis of corpus callosumHP:0001274
  • Developmental regressionHP:0002376
  • Epileptic spasmHP:0011097
  • Hip subluxationHP:0030043
  • HypsarrhythmiaHP:0002521
  • Increased CSF lactateHP:0002490
  • Increased cup-to-disc ratioHP:0012796
  • Neurogenic bladderHP:0000011
  • Optic atrophyHP:0000648
  • PolyhydramniosHP:0001561
  • Secondary microcephalyHP:0005484
  • Vocal cord paralysisHP:0001605