SR2412
AR Stargardt Disease (IIA)
Female
Female
SR2412
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 | Gly1740Glu GGG>GAG | IVS36+1137 G>A | AR |
Disease:
Gene:
Allele 1:
Gly1740Glu GGG>GAG
Allele 2:
IVS36+1137 G>A
Inheritance:
AR