Case
SR1077
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1077
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
History
This eight year old boy has had poor night vision since early childhood.
Pedigree
| Age at visit: 8 years |
| Age at visit: 11 years |
| Age at visit: 13 years |
| Age at visit: 15 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Duplication Exons 6-8 | XL |