Case
SR1860
Student Mode
Retinitis Pigmentosa with Anemia (IB10)
Male
Male
Hidden
SR1860
Student Mode
Retinitis Pigmentosa with Anemia (IB10)
Male
Male
Pedigree
| Age at visit: 18 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Retinitis Pigmentosa with Anemia | TRNT1 | IVS5-26 T>C | Lys416 ins1tggA | AR |
Disease:
Gene:
Allele 1:
IVS5-26 T>C
Allele 2:
Lys416 ins1tggA
Inheritance:
AR