SR2593
AR Stargardt Disease (IIA)
Female
Female
SR2593
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 | Pro1720 del2ccCA | Lys2056Stop AAG>TAG | AR |
Disease:
Gene:
Allele 1:
Pro1720 del2ccCA
Allele 2:
Lys2056Stop AAG>TAG
Inheritance:
AR