Case
SR1071
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1071
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Highlighted Images
| Age at visit: 15 years | |
| OD | OS |
|---|---|
Pedigree
| Age at visit: 15 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Arg253Stop CGA>TGA | XL |