SR1207
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
SR1207
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Pedigree
| Age at visit: 27 years |
| Age at visit: 28 years |
| Age at visit: 29 years |
| Age at visit: 30 years |
| Age at visit: 36 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Cone and Cone Rod Dystrophy | RPGR | Arg1059 del2aacAG | XL |
Disease:
Gene:
Allele 1:
Arg1059 del2aacAG
Allele 2:
Inheritance:
XL