Case
SR2591
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2591
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Trp431Stop TGG>TGA | Thr1526Met ACG>ATG | AR |
Disease:
Gene:
Allele 1:
Trp431Stop TGG>TGA
Allele 2:
Thr1526Met ACG>ATG
Inheritance:
AR