SR2552
XL Retinitis Pigmentosa (IA1ai)
Male
Male
SR2552
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Tyr1085 del1taC | XL |