Case
SR331
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
Hidden
SR331
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Cone Dysfunction | KCNV2 | Glu148Stop GAA>TAA | Glu148Stop GAA>TAA | AR |
Gene:
Allele 1:
Glu148Stop GAA>TAA
Allele 2:
Glu148Stop GAA>TAA
Inheritance:
AR