SR1073
XL Choroideremia (IIIA1a)
Male
Male
SR1073
XL Choroideremia (IIIA1a)
Male
Male
Highlighted Images
| Age at visit: 14 years | OD | OS |
|---|---|
History
This 14 year old boy noticed that his vision in dim light was not normal while deer hunting recently with his friends.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Deletion Exons 9-15 | XL |