TSEN54
Deellabo: | PGD DNA |
Gen (Gen Code): | TSEN54 |
Aliases Gen: | PCH2A, PCH4, SEN54L, sen54 |
Gen ID (NCBI): | 283989 |
OMIM Gen ID: | 608755 |
Chromosomale locatie: | 17q25.1 |
Genetische aandoening / Analyse: | Pontocerebellaire hypoplasie type 2A |
OMIM aandoening ID: | 277470 |
Overerving: | AR |
Aliases aandoening: | PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A PCH2 PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY VOLENDAM NEURODEGENERATIVE DISEASE |