VPS13B
Deellabo: | PGD DNA |
Gen (Gen Code): | VPS13B |
Aliases Gen: | CHS1, COH1 |
Gen ID (NCBI): | 157680 |
OMIM Gen ID: | 607817 |
Chromosomale locatie: | 8q22.2 |
Genetische aandoening / Analyse: | Cohen syndroom (COH) |
OMIM aandoening ID: | 216550 |
Overerving: | AR |
Aliases aandoening: | COHEN SYNDROME; COH1 HYPOTONIA, OBESITY, AND PROMINENT INCISORS PEPPER SYNDROME CHS1, FORMERLY |