SMN1

Deellabo: PGD DNA
Gen (Gen Code): SMN1
Aliases Gen: SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMN2; SMNT; BCD541; T-BCD541; SMN1
Gen ID (NCBI): 6606
OMIM Gen ID: 600354
Chromosomale locatie: 5q13.2
Genetische aandoening / Analyse: Spinale spieratrofie (SMA)
OMIM aandoening ID: 253300
253400
253550
Overerving: AR
Opmerking 1: For this indication, one of the existing tests can be used for most couples.
Aliases aandoening: SPINAL MUSCULAR ATROPHY, SMA
SMA I SMA II SMA III
TYPE I; SMA1
TYPE II; SMA2 
TYPE III; SMA3
WERDNIG-HOFFMANN DISEASE
KUGELBERG-WELANDER SYNDROME; KWS

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