Case
SR166
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR166
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Pedigree
| Age at visit: 56 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | DHDDS | Lys42Glu AAG>GAG | Lys42Glu AAG>GAG | AR |
Disease:
Gene:
Allele 1:
Lys42Glu AAG>GAG
Allele 2:
Lys42Glu AAG>GAG
Inheritance:
AR