SR341
AR Stargardt Disease (IIA)
Female
Female
SR341
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 | Pro1380Leu CCG>CTG | Met1984Arg ATG>AGG | AR |
Disease:
Gene:
Allele 1:
Pro1380Leu CCG>CTG
Allele 2:
Met1984Arg ATG>AGG
Inheritance:
AR