Case
SR76
Student Mode
Batten Disease (IB3)
Male
Male
Hidden
SR76
Student Mode
Batten Disease (IB3)
Male
Male
History
This 5 year old boy recently failed a school vision screen.
Pedigree
| Age at visit: 6 years |
| Age at visit: 9 years |
| Age at visit: 11 years |
| Age at visit: 12 years |
| Age at visit: 13 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Batten Disease | PPT1 | Thr75Pro ACC>CCC | Arg122Trp AGG>TGG | AR |
Disease:
Gene:
Allele 1:
Thr75Pro ACC>CCC
Allele 2:
Arg122Trp AGG>TGG
Inheritance:
AR