Case
SR206
Student Mode
Leber Congenital Amaurosis (IA2a)
Male
Male
Hidden
SR206
Student Mode
Leber Congenital Amaurosis (IA2a)
Male
Male
Highlighted Images
| Age at visit: 15 years | |
| OD | OS |
|---|---|
Pedigree
| Age at visit: 15 years |
| Age at visit: 22 years |
| Age at visit: 24 years |
| Age at visit: 27 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | NMNAT1 | Met35Val ATG>GTG | Trp169Stop TGG>TGA | AR |
Disease:
Gene:
Allele 1:
Met35Val ATG>GTG
Allele 2:
Trp169Stop TGG>TGA
Inheritance:
AR