SR1049
AR Stargardt Disease (IIA)
Female
Female
SR1049
AR Stargardt Disease (IIA)
Female
Female
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Phe418Ser TTT>TCT | Unknown | AR |
Disease:
Gene:
Allele 1:
Phe418Ser TTT>TCT
Allele 2:
Unknown
Inheritance:
AR