Case
SR2431
Student Mode
Retinitis Pigmentosa with Ataxia (IB7)
Male
Male
Hidden
SR2431
Student Mode
Retinitis Pigmentosa with Ataxia (IB7)
Male
Male
History
This 64 year old man has a personal and family history of autosomal dominant cerebellar ataxia.
Pedigree
| Age at visit: 64 years |
| Age at visit: 68 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Retinitis Pigmentosa with Ataxia | ELOVL4 | Ile171Thr ATT>ACT | AD |
Disease:
Gene:
Allele 1:
Ile171Thr ATT>ACT
Allele 2:
Inheritance:
AD