SR369
AR Stargardt Disease (IIA)
Male
Male
SR369
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 | Arg1098Cys CGC>TGC | Thr1112Asn ACC>AAC | AR |
Disease:
Gene:
Allele 1:
Arg1098Cys CGC>TGC
Allele 2:
Thr1112Asn ACC>AAC
Inheritance:
AR