Case
SR325
Student Mode
Spinocerebellar Ataxia 34 (IB7b)
Male
Male
Hidden
SR325
Student Mode
Spinocerebellar Ataxia 34 (IB7b)
Male
Male
Pedigree
| Age at visit: 58 years |
| Age at visit: 59 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Spinocerebellar Ataxia 34 | ELOVL4 | Ile171Thr ATT>ACT | AD |
Disease:
Gene:
Allele 1:
Ile171Thr ATT>ACT
Allele 2:
Inheritance:
AD