SR366
AR Stargardt Disease (IIA)
Female
Female
SR366
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 | Ala1038Val GCC>GTC | IVS40+5 G>A | AR |
Disease:
Gene:
Allele 1:
Ala1038Val GCC>GTC
Allele 2:
IVS40+5 G>A
Inheritance:
AR