Case
SR18
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR18
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Pedigree
| Age at visit: 9 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | PDE6B | Gln298Stop CAG>TAG | IVS17+5 G>A | AR |
Disease:
Gene:
Allele 1:
Gln298Stop CAG>TAG
Allele 2:
IVS17+5 G>A
Inheritance:
AR