SR1583
AR Stargardt Disease (IIA)
Female
Female
SR1583
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 | Cys54Tyr (T)GC>(T)AC | Ser1096Leu TCG>TTG | AR |
Disease:
Gene:
Allele 1:
Cys54Tyr (T)GC>(T)AC
Allele 2:
Ser1096Leu TCG>TTG
Inheritance:
AR