SR162
AR Stargardt Disease (IIA)
Female
Female
SR162
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 | Pro291Leu CCG>CTG | Trp1408Arg TGG>CGG / Arg1640Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
Pro291Leu CCG>CTG
Allele 2:
Trp1408Arg TGG>CGG / Arg1640Trp CGG>TGG
Inheritance:
AR