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CNTNAP2-related developmental and epileptic encephalopathy

ORPHA:163681 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(6)

  • Abnormal neuron morphologyHP:0012757
  • Abnormality of neuronal migrationHP:0002269
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Focal-onset seizureHP:0007359
  • SeizureHP:0001250

Frequent (79-30%)(11)

  • Bilateral tonic-clonic seizure with focal onsetHP:0007334
  • EEG with generalized epileptiform dischargesHP:0011198
  • EEG with generalized polyspikesHP:0012001
  • EEG with generalized slow activityHP:0010845
  • Global developmental delayHP:0001263
  • Interictal epileptiform activityHP:0011182
  • Mental deteriorationHP:0001268
  • Motor delayHP:0001270
  • Poor speechHP:0002465
  • Progressive language deteriorationHP:0007064
  • Severe intellectual disabilityHP:0010864

Occasional (29-5%)(32)

  • Abnormal temper tantrumsHP:0025160
  • Absent speechHP:0001344
  • Aggressive behaviorHP:0000718
  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • AutismHP:0000717
  • Cerebellar vermis atrophyHP:0006855
  • Cerebral palsyHP:0100021
  • Downslanted palpebral fissuresHP:0000494
  • EEG with focal spikesHP:0011193
  • Feeding difficultiesHP:0011968
  • HepatomegalyHP:0002240
  • HyperactivityHP:0000752
  • HypertelorismHP:0000316
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Intermittent hyperventilationHP:0004879
  • Low frustration toleranceHP:0000744
  • Lower limb spasticityHP:0002061
  • Moderate intellectual disabilityHP:0002342
  • NystagmusHP:0000639
  • ObesityHP:0001513
  • Periventricular leukomalaciaHP:0006970
  • Pes cavusHP:0001761
  • Preaxial polydactylyHP:0100258
  • Precocious pubertyHP:0000826
  • Receptive language delayHP:0010863
  • Reduced eye contactHP:0000817
  • Self-mutilationHP:0000742
  • Skin-pickingHP:0012166
  • Stereotypical hand wringingHP:0012171