SR179
AR Stargardt Disease (IIA)
Male
Male
SR179
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 | Phe608Ile TTT>ATT | Ala1038Val GCC>GTC | AR |
Disease:
Gene:
Allele 1:
Phe608Ile TTT>ATT
Allele 2:
Ala1038Val GCC>GTC
Inheritance:
AR