Case
SR1101
Student Mode
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
Hidden
SR1101
Student Mode
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Congenital Stationary Night Blindness | NYX | Trp273Stop TGG>TGA | XL |
Gene:
Allele 1:
Trp273Stop TGG>TGA
Allele 2:
Inheritance:
XL