Case
SR1500
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1500
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 | Cys1490Tyr TGC>TAC | IVS30+2001G>A | AR |
Disease:
Gene:
Allele 1:
Cys1490Tyr TGC>TAC
Allele 2:
IVS30+2001G>A
Inheritance:
AR