SR2389

Batten Disease (IB3)

Male

Male

SR2389

Batten Disease (IB3)

Male

Male

Highlighted Images

Age at visit: 9 years
OD OS

Pedigree

Age at visit: 7 years
Age at visit: 8 years
Age at visit: 8 years (Visit 2)
Age at visit: 9 years
Age at visit: 9 years (Visit 2)
Age at visit: 10 years
Age at visit: 10 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Batten Disease CLN3 Deletion Exons 9-10 IVS6-23del4tCTCA AR
Disease:
Gene:
Allele 1:
Deletion Exons 9-10
Allele 2:
IVS6-23del4tCTCA
Inheritance:
AR
Cite this case