Case
SR513
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
Hidden
SR513
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
Pedigree
| Age at visit: 30 years |
| Age at visit: 31 years |
| Age at visit: 33 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Cone and Cone Rod Dystrophy | GUCY2D | Arg838Cys CGC>TGC | AD |
Disease:
Gene:
Allele 1:
Arg838Cys CGC>TGC
Allele 2:
Inheritance:
AD