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

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