Case
SR411
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
Hidden
SR411
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Male
Male
Pedigree
| Age at visit: 3 years (Visit 2) |
| Age at visit: 7 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Enhanced S-Cone Syndrome | NR2E3 | IVS1-2 A>C | IVS1-2 A>C | AR |
Disease:
Gene:
Allele 1:
IVS1-2 A>C
Allele 2:
IVS1-2 A>C
Inheritance:
AR