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Northern epilepsy
ORPHA:1947 · Clinical subtype · Subtype of disorder
HPO 表現型（共 40 項）
Very frequent (99-80%)(7)
- Cerebellar atrophyHP:0001272
- Inability to walkHP:0002540
- Intellectual disabilityHP:0001249
- Intracellular accumulation of autofluorescent lipopigment storage materialHP:0003204
- SeizureHP:0001250
- Vascular granular osmiophilic material depositionHP:0003657
- Visual impairmentHP:0000505
Frequent (79-30%)(23)
- Abnormal speech patternHP:0002167
- Abnormality of pattern visual evoked potentialsHP:0030455
- AtaxiaHP:0001251
- Cerebral atrophyHP:0002059
- ClumsinessHP:0002312
- Cognitive impairmentHP:0100543
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage materialHP:0003205
- Delayed speech and language developmentHP:0000750
- Difficulty standingHP:0003698
- EEG with abnormally slow frequenciesHP:0011203
- EEG with generalized epileptiform dischargesHP:0011198
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialHP:0003208
- Gait ataxiaHP:0002066
- Generalized myoclonic seizureHP:0002123
- Loss of speechHP:0002371
- Motor deteriorationHP:0002333
- Motor regressionHP:0033044
- Optic disc pallorHP:0000543
- Progressive visual lossHP:0000529
- Spastic tetraplegiaHP:0002510
- Spontaneous abortionHP:0005268
- Undetectable electroretinogramHP:0000550
- Unsteady gaitHP:0002317
Occasional (29-5%)(10)
- Atypical behaviorHP:0000708
- Autistic behaviorHP:0000729
- DementiaHP:0000726
- DysphagiaHP:0002015
- Focal impaired awareness seizureHP:0002384
- Frequent fallsHP:0002359
- Gastrostomy tube feeding in infancyHP:0011471
- Global developmental delayHP:0001263
- Hyperintensity of cerebral white matter on MRIHP:0030890
- T2 hypointense thalamusHP:0012690