BSCL2

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

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