Phenotypes for disease #03454 (EPM (epilepsy, myoclonic, progressive (EPM)))

66 entries on 1 page. Showing entries 1 - 66.
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0000252755 Developmental delay. Walked independently at 2y; unsteady wide gait noted at 2.5y. Generalized epileptiform discharges recorded at 2.5yr. First TCS at 5y during illness. Recurrent convulsions some with a focal component. Resting and action myoclonus noted at 10y. Tremor. Increasing difficultly with gait from 11y; wheelchair by 14y. Dysarthria noted at 16y. Moderate intellectual disability; no definitive cognitive decline. No pyramidal signs and head circumference on 50th centile. Alive at 39y. progressive myoclonus epilepsy , developmental delay EPM11 Isolated (sporadic) - - - - - Carolina Courage 00334902
0000252756 Developmental delay. Late walker and always unstaedy with tremor. Ataxia (approx 2.5y). Drop attacks and absence seizures (4y); TCS (11y); Wheelchair (11y);. Severe generalised and multifocal myoclonus (15y); myoclonic status. Slow cognitive regression from 5y. Severe intellectual disability. No pyramidal signs and head circumference normal. Alive age 37y. progressive myoclonus epilepsy , developmental delay EPM11 Isolated (sporadic) - - - - - Carolina Courage 00334899
0000292489 see paper ..., progressive myoclonus epilepsy; 2y-mild gait ataxia, transient episodes omotor deterioration triggered by infection and fever; 14y-generalized action myoclonus, epilepsy; heterozygous carrier brother suffers from typical cervical dystonia progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 61y - - - - Johan den Dunnen 00399378
0000292491 see paper; ..., 1y-ataxia; 4y6m-myoclonus; nocturnal status myoclonica; 8y6m-generalized tonic clonic seizures; 14m-febrile convulsion; scoliosis, thickened webbing between second and third toe; highest CK 1135 IU; 11y-wheelchair bound progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 10y - - - - Johan den Dunnen 00399381
0000292493 see paper; ..., 3y-ataxia; 5y-myoclonus; 21y-generalized tonic clonic seizures; 7y-absence; drop attacks during fever; 2y-atypical absence; scoliosis, pes cavus; highest CK 2360 IU; 10y-wheelchair bound; 24y-dysphagia; 26y-PEG, respirator dependent progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 29y - - - - Johan den Dunnen 00399382
0000292494 see paper; ..., 3y6m-ataxia; 4y-myoclonus; 8y-generalized tonic clonic seizures; 5y-absence; scoliosis; highest CK 2467 IU; 10y-wheelchair bound; 25y-dysphagia; 27y-deceased status epilepticus progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 27y - - - - Johan den Dunnen 00399383
0000292495 see paper; ..., 2y-ataxia; 6y-myoclonus; 10y-generalized tonic clonic seizures; drop attacks; scoliosis, pes cavus; highest CK 500 IU; 14y-wheelchair bound progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 18y - - - - Johan den Dunnen 00399384
0000292496 see paper; ..., 3y-ataxia; 12y-myoclonus; 3y-generalized tonic clonic seizures, absence, drop attacks; scoliosis; highest CK 391 IU; 24y-wheelchair bound; 26y-dysphagia progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 37y - - - - Johan den Dunnen 00399385
0000292497 see paper; ..., 2y3m-ataxia; 6y-myoclonus; 12y-generalized tonic clonic seizures; scoliosis, pes cavus; highest CK 989 IU; 10y-wheelchair bound; dysphagia early childhood progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 13y - - - - Johan den Dunnen 00399386
0000292500 see paper; ... progressive myoclonus epilepsy EPM6 Familial, autosomal recessive - - - - - Johan den Dunnen 00399389
0000292501 see paper; ... progressive myoclonus epilepsy EPM6 Familial, autosomal recessive - - - - - Johan den Dunnen 00399390
0000292502 see paper; ... progressive myoclonus epilepsy EPM6 Familial, autosomal recessive - - - - - Johan den Dunnen 00399391
0000294243 2-3y-trembling/jerks, frequently falling; 4y-ataxia; 4y-myoclonus; walks progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 5y - - - - Johan den Dunnen 00401200
0000294244 1-2y-delayed motor development (difficulties sitting without support, 22m-walk), gait disorder, frequently falling, clumsiness, hypotonia; 2y-ataxia; 5y-myoclonus; 7y-seizures; walks progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 8y - - - - Johan den Dunnen 00401201
0000294245 1y-clumsiness, frequently falling; 2y-ataxia during intercurrent illness; 2y-ataxia; 3y-myoclonus; 7y-seizures; scoliosis, pes varus; barely walks, frequent use wheelchair; CK 2816 progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 8y - - - - Johan den Dunnen 00401202
0000294246 slightly delayed development (11m-sit, 16m-walk); 4y-muscle weakness, areflexia, facial diplegia during intercurrent illness (initially presumed to be GBS); 5y-ataxia; 8y-myoclonus; 8y-seizures; scoliosis, pes cavus; barely walks, frequent use wheelchair; CH 83 progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 31y - - - - Johan den Dunnen 00401203
0000294247 birth-jerks; 7y-clumsiness ; 8y-ataxia; 9y-myoclonus; 8y-seizures; scoliosis, syndactyly of hands and toes; barely walks, frequent use wheelchair; CK 182 progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 31y - - - - Johan den Dunnen 00401204
0000294248 2y-delayed motor development (2y-walk), gait disorder; ataxia; myoclonus; 6/7y-seizures; wheelchair bound; CK 237 progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 36y - - - - Johan den Dunnen 00401205
0000294249 birth-hypotonia; 13m-walk on toes and needed support during walking; 4y-gait disorder, motoric skill impairment; ataxia; 5-6y-myoclonus; 8y-seizures; scoliosis; wheelchair bound progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 41y - - - - Johan den Dunnen 00401206
0000294250 2y-clumsiness, frequently falling, gait disorder after intercurrent illness; 3y-ataxia; 4y-myoclonus; 6y/7y-seizures; pes cavus; wheelchair bound progressive myoclonus epilepsy EPM6 Familial, autosomal recessive 46y - - - - Johan den Dunnen 00401207
0000297362 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404796
0000297363 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404797
0000297364 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404798
0000297365 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404799
0000297366 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404800
0000297367 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404801
0000297368 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404802
0000297369 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404803
0000297370 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404804
0000297371 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404805
0000297372 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404806
0000297373 - progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404807
0000297379 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404815
0000297380 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404816
0000297381 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404817
0000297382 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404818
0000297383 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404819
0000297384 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404820
0000297385 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404821
0000297386 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404822
0000297387 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404823
0000297388 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404824
0000297389 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404825
0000297390 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404826
0000297391 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404827
0000297392 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404828
0000297393 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404829
0000297394 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404830
0000297395 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404831
0000297396 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404832
0000297397 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404833
0000297398 - progressive myoclonic epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404834
0000297399 see paper; ... Unverricht-Lundborg progressive myoclonus epilepsy EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404835
0000297423 see paper; ... Unverricht-Lundborg progressive myoclonus epilepsy EPM1 Familial, autosomal recessive - - - - - Johan den Dunnen 00404860
0000297427 see paper; ... Unverricht-Lundborg progressive myoclonus epilepsy EPM1A Familial, autosomal recessive 18y - - - - Johan den Dunnen 00404863
0000297428 see paper; ... Unverricht-Lundborg progressive myoclonus epilepsy EPM1A Familial, autosomal recessive 16y - - - - Johan den Dunnen 00404864
0000297429 see paper; ... Unverricht-Lundborg progressive myoclonus epilepsy EPM1A Familial, autosomal recessive 33y - - - - Johan den Dunnen 00404865
0000297437 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404874
0000297438 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404875
0000297439 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404876
0000297440 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404877
0000297441 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404878
0000297442 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404879
0000297443 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404880
0000297444 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404881
0000297445 see paper; ... Unverricht-Lundborg disease EPM1A Familial, autosomal recessive - - - - - Johan den Dunnen 00404882
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