SR117
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
SR117
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CDHR1 | Gln175 ins1cA | Gln175 ins1cA | AR |
Disease:
Gene:
Allele 1:
Gln175 ins1cA
Allele 2:
Gln175 ins1cA
Inheritance:
AR