Case
SR1744
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
Hidden
SR1744
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
Pedigree
| Age at visit: 31 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Gln229 del5cAGAAG | XL |