Case
SR760
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
Hidden
SR760
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
History
This 7 year old boy had nystagmus first noticed at 4 months of age.
Pedigree
| Age at visit: 10 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Blue Cone Monochromacy | L/M OPSIN Cluster | Promoter Deletion LCR | XL |
Disease:
Gene:
Allele 1:
Promoter Deletion LCR
Allele 2:
Inheritance:
XL