BSCL2
Deellabo: | PGD DNA |
Gen (Gen Code): | BSCL2 |
Aliases Gen: | GNG3LG, HMN5, SPG17 |
Gen ID (NCBI): | 26580 |
OMIM Gen ID: | 606158 |
Chromosomale locatie: | 11q13 |
Genetische aandoening / Analyse: | Neuropathie, distale erfelijke motorische, type V (HMN5) |
OMIM aandoening ID: | 600794 |
Overerving: | AD |
Aliases aandoening: | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5 HMN V DHMN V NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE V DHMN5 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV SPINAL MUSCULAR ATROPHY, DISTAL, WITH UPPER LIMB PREDOMINANCE |