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Early-onset epilepsy-intellectual disability-brain anomalies syndrome

ORPHA:488635 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(3)

  • HypotoniaHP:0001252
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344

Frequent (79-30%)(11)

  • Abnormal facial shapeHP:0001999
  • Abnormal lateral ventricle morphologyHP:0030047
  • Cerebellar hypoplasiaHP:0001321
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Gait ataxiaHP:0002066
  • Gait imbalanceHP:0002141
  • Growth delayHP:0001510
  • Hypoplasia of the corpus callosumHP:0002079
  • HyporeflexiaHP:0001265
  • Joint hypermobilityHP:0001382

Occasional (29-5%)(19)

  • Absent speechHP:0001344
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebellar atrophyHP:0001272
  • Depressed nasal bridgeHP:0005280
  • DrowsinessHP:0002329
  • EEG with focal spikesHP:0011193
  • Feeding difficultiesHP:0011968
  • Hyperextensibility of the finger jointsHP:0001187
  • HypermetropiaHP:0000540
  • Hypermobility of toe jointsHP:0010510
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • Muscle spasmHP:0003394
  • Pes planusHP:0001763
  • Pes valgusHP:0008081
  • Severe demyelination of the white matterHP:0007258
  • Thin upper lip vermilionHP:0000219
  • Wide noseHP:0000445