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Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

ORPHA:529665 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(2)

  • EEG abnormalityHP:0002353
  • SeizureHP:0001250

Frequent (79-30%)(25)

  • Anteverted naresHP:0000463
  • Bilateral tonic-clonic seizureHP:0002069
  • Broad nasal tipHP:0000455
  • Cerebellar atrophyHP:0001272
  • Cerebellar hypoplasiaHP:0001321
  • Delayed speech and language developmentHP:0000750
  • Difficulty standingHP:0003698
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • Mild intellectual disabilityHP:0001256
  • MyopiaHP:0000545
  • Narrow foreheadHP:0000341
  • Neurodevelopmental delayHP:0012758
  • NystagmusHP:0000639
  • Oculomotor apraxiaHP:0000657
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Prominent foreheadHP:0011220
  • SpasticityHP:0001257
  • TremorHP:0001337

Very rare (<4-1%)(3)

  • Optic atrophyHP:0000648
  • Status epilepticusHP:0002133
  • Visual impairmentHP:0000505

Excluded (0%)(1)

  • Elevated circulating alkaline phosphatase concentrationHP:0003155