Phenotypes for disease #03139 (EPM1B (epilepsy, progressive myoclonic, type 1B (EPM1B)), OMIM:612437)

7 entries on 1 page. Showing entries 1 - 7.
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AscendingPhenotype ID     

Phenotype details     

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Age/Diagnosis     

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Individual ID     
0000021126 Onset with tonic seizures at 36 hours. Developmental delay with later regression. Myoclonus noted from 8 months. TCS from 3.5 years. Ataxia, spasticity, supranuclear gaze palsy. Visual decline. Initially regarded as an epileptic encephalopathy but florid PME pattern apparent by age 9. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025006
0000168033 - - - Isolated (sporadic) - - - - - LOVD 00222910
0000168034 - - - Isolated (sporadic) - - - - - LOVD 00222911
0000168035 - - - Isolated (sporadic) - - - - - LOVD 00222912
0000168036 myoclonic seizures, generalized EEG pattern, mild mental retardation - - Unknown - - - - - LOVD 00222913
0000168037 juvenile myoclonic epilepsy - - Unknown - - - - - LOVD 00222914
0000257423 Onset age 13 of frequent action and reflex myoclonus on a background of normal development. Slowly progressive ataxia and mild cognitive dysfunction noted from age 16. Two isolated TCS. Scoliosis. Morbidly obese. Unverricht-Lundborg disease like - Familial, autosomal recessive - - - - - Johan den Dunnen 00334880
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