Phenotypes for disease #00207 (CJD (Creutzfeldt-Jakob disease (CJD)), OMIM:123400)

23 entries on 1 page. Showing entries 1 - 23.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000002909 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004169
0000002910 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004170
0000002911 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004171
0000002912 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004172
0000002914 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00004174
0000002923 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00004183
0000002924 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00004184
0000002925 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00004185
0000002927 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004187
0000002928 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004188
0000002929 dementia, atypical - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004189
0000002935 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00004195
0000002936 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00004196
0000002937 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00004197
0000002938 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00004198
0000002939 - - - Unknown - - - - - Johan den Dunnen 00004199
0000002940 - - - Unknown - - - - - Johan den Dunnen 00004200
0000002941 - - - Unknown - - - - - Johan den Dunnen 00004201
0000002949 atypical - - Unknown - - - - - Johan den Dunnen 00004209
0000016192 - - - Unknown - - - - - J Beck 00011462
0000016198 see paper; 75y-excessive fatigue, perceived left sided weakness/sensory disturbances feet; in 6m rapid deterioration, recurrent falls, asymmetrical akinetic rigid syndrome, broken pursuit eye movements, myoclonic jerks, mild apraxia with well preserved cognition; MRI high signal change putamen/caudate nuclei bilaterally (particularly right); CSF unremarkable (14-3-3 absent); EEG left hemisphere slow wave activity; declined rapidly, died without post-mortem examination - - Isolated (sporadic) 75y - - - - Johan den Dunnen 00017845
0000016211 see paper - - Familial, autosomal dominant - - - - - Johan den Dunnen 00017856
0000016212 see paper - - Familial - - - - - Johan den Dunnen 00017857
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