Phenotypes for disease #01952

41 entries on 1 page. Showing entries 1 - 41.
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0000054288 The clinical features of the epileptic syndrome are homogeneous in all 8 affected members of the family over four generations. . We assessed individuals I-01 and II-03 indirectly via individual II-04. The phenotype of individuals I-01 and II-03 seems to be compatible with JME. Individual IV-02 has EEG abnormalities (photosensitivity), but does not present clinical seizures. - - Familial, autosomal dominant - - - - - Bernt Popp 00074465
0000073815 intellectual disability - - Familial, autosomal recessive - 00y06m - - - Hermann-Josef Lüdecke 00095415
0000073816 intellectual disability - - Familial, autosomal recessive - - - - - Hermann-Josef Lüdecke 00095416
0000073817 intellectual disability - - Familial, autosomal recessive - - 00y01m - - Hermann-Josef Lüdecke 00095418
0000073836 - - - Familial 15y - 12y - - Anuranjan Anand 00095424
0000073837 - - - Isolated (sporadic) 21y - 18y - - Anuranjan Anand 00095425
0000141839 see paper juvenile myoclonic epilepsy EJM Familial, autosomal dominant - - - - - Johan den Dunnen 00177029
0000141840 see paper juvenile myoclonic epilepsy EJM Familial, autosomal dominant - - - - - Johan den Dunnen 00177030
0000141841 see paper juvenile myoclonic epilepsy EJM Familial, autosomal dominant - - - - - Johan den Dunnen 00177031
0000141842 see paper juvenile myoclonic epilepsy EJM Familial, autosomal dominant - - - - - Johan den Dunnen 00177032
0000141843 see paper juvenile myoclonic epilepsy EJM Familial, autosomal dominant - - - - - Johan den Dunnen 00177033
0000141844 see paper juvenile myoclonic epilepsy EJM Familial, autosomal dominant - - - - - Johan den Dunnen 00177034
0000141845 see paper juvenile myoclonic epilepsy EJM Familial, autosomal dominant - - - - - Johan den Dunnen 00177035
0000141846 myoclonic seizure, generalized tonic–clonic seizure, absence seizure; photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown - - 20y - - Johan den Dunnen 00177036
0000141847 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 49y - 19y - - Johan den Dunnen 00177037
0000141848 myoclonic seizure, generalized tonic–clonic seizure juvenile myoclonic epilepsy EJM Unknown 20y - - - - Johan den Dunnen 00177038
0000141849 myoclonic seizure, generalized tonic–clonic seizure juvenile myoclonic epilepsy EJM Unknown 24y - - - - Johan den Dunnen 00177039
0000141850 myoclonic seizure, generalized tonic–clonic seizure, absence seizure; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 20y - 16y - - Johan den Dunnen 00177040
0000141851 myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 41y - 13y - - Johan den Dunnen 00177041
0000141852 myoclonic seizure, generalized tonic–clonic seizure; EEG normal; juvenile myoclonic epilepsy EJM Unknown 15y - 12y - - Johan den Dunnen 00177042
0000141853 myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 22y - - - - Johan den Dunnen 00177043
0000141854 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 20y - - - - Johan den Dunnen 00177044
0000141855 myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 22y - - - - Johan den Dunnen 00177045
0000141856 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 22y - 14y - - Johan den Dunnen 00177046
0000141857 myoclonic seizure, generalized tonic–clonic seizure juvenile myoclonic epilepsy EJM Unknown 18y - 17y - - Johan den Dunnen 00177047
0000141858 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 33y - 13y - - Johan den Dunnen 00177048
0000141859 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 12y - 12y - - Johan den Dunnen 00177049
0000141860 myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 23y - - - - Johan den Dunnen 00177050
0000141861 myoclonic seizure,generalized tonic–clonic seizure, absence seizure,febrile seizure; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 23y - 15y - - Johan den Dunnen 00177051
0000141862 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; juvenile myoclonic epilepsy EJM Unknown 13y - 12y - - Johan den Dunnen 00177052
0000141863 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 22y - 14y - - Johan den Dunnen 00177053
0000141864 myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 49y - 8y - - Johan den Dunnen 00177054
0000141865 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 27y - 13y - - Johan den Dunnen 00177055
0000141866 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 21y - 18y - - Johan den Dunnen 00177056
0000141867 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 20y - 13y - - Johan den Dunnen 00177057
0000141868 myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 28y - 18y - - Johan den Dunnen 00177058
0000141869 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 18y - 15y - - Johan den Dunnen 00177059
0000141870 myoclonic seizure, generalized tonic–clonic seizure juvenile myoclonic epilepsy EJM Unknown 20y - - - - Johan den Dunnen 00177060
0000141871 myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 20y - 14y - - Johan den Dunnen 00177061
0000141872 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 28y - 11y - - Johan den Dunnen 00177062
0000141873 myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response juvenile myoclonic epilepsy EJM Unknown 15y - 14y - - Johan den Dunnen 00177063
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