SR391
AR Stargardt Disease (IIA)
Male
Male
SR391
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 | Ala758Val GCC>GTC | Leu2027Phe CTC>TTC | AR |
Disease:
Gene:
Allele 1:
Ala758Val GCC>GTC
Allele 2:
Leu2027Phe CTC>TTC
Inheritance:
AR