SR279
AR Stargardt Disease (IIA)
Female
Female
SR279
AR Stargardt Disease (IIA)
Female
Female
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Trp439Stop TGG>TGA | Gly863Ala (G)GA>(G)CA | AR |
Disease:
Gene:
Allele 1:
Trp439Stop TGG>TGA
Allele 2:
Gly863Ala (G)GA>(G)CA
Inheritance:
AR