ATXN7
Deellabo: | PGD DNA |
Gen (Gen Code): | ATXN7 |
Aliases Gen: | SCA7; OPCA3; ADCAII; FLJ17787; ATXN7 |
Gen ID (NCBI): | 6314 |
OMIM Gen ID: | 607640 |
Chromosomale locatie: | 3p14.1 |
Genetische aandoening / Analyse: | Spinocerebellaire ataxie 7 (SCA7) |
OMIM aandoening ID: | 164500 |
Overerving: | AD |
Aliases aandoening: | SPINOCEREBELLAR ATAXIA 7; SCA7 OLIVOPONTOCEREBELLAR ATROPHY III; OPCA3 OPCA III OPCA WITH RETINAL DEGENERATION OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II ADCA, TYPE II |