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RNF13-related severe early-onset epileptic encephalopathy

ORPHA:544503 · Disease · Disorder

HPO 表現型（共 49 項）

Frequent (79-30%)(27)

  • Abnormality of eye movementHP:0000496
  • Cerebral visual impairmentHP:0100704
  • EEG with focal epileptiform dischargesHP:0011185
  • EEG with generalized slow activityHP:0010845
  • Epileptic encephalopathyHP:0200134
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Flexion contractureHP:0001371
  • Gastrostomy tube feeding in infancyHP:0011471
  • HypertoniaHP:0001276
  • Hypoplasia of the corpus callosumHP:0002079
  • Inguinal herniaHP:0000023
  • Interictal EEG abnormalityHP:0025373
  • IrritabilityHP:0000737
  • MicrocephalyHP:0000252
  • Midface retrusionHP:0011800
  • Narrow foreheadHP:0000341
  • Narrow nasal bridgeHP:0000446
  • Profound intellectual disabilityHP:0002187
  • RestlessnessHP:0000711
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short chinHP:0000331
  • Short noseHP:0003196
  • SpasticityHP:0001257
  • Visual fixation instabilityHP:0025405

Occasional (29-5%)(22)

  • Abnormal facial shapeHP:0001999
  • Abnormal vitamin B12 levelHP:0040126
  • Bilateral tonic-clonic seizureHP:0002069
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • Delayed myelinationHP:0012448
  • Delayed skeletal maturationHP:0002750
  • Edema of the dorsum of feetHP:0012098
  • Edema of the dorsum of handsHP:0007514
  • Elevated maternal circulating alpha-fetoprotein concentrationHP:0011432
  • Finger joint hypermobilityHP:0006094
  • Generalized hypotoniaHP:0001290
  • Hip dysplasiaHP:0001385
  • HypodontiaHP:0000668
  • Infantile spasmsHP:0012469
  • Joint hypermobilityHP:0001382
  • Metacarpophalangeal joint contractureHP:0006070
  • Nail dysplasiaHP:0002164
  • Respiratory distressHP:0002098
  • SepsisHP:0100806
  • Tapered fingerHP:0001182
  • Wrist hypermobilityHP:0005072