SR715

Leber Congenital Amaurosis (IA2a)

Female

Female

SR715

Leber Congenital Amaurosis (IA2a)

Female

Female

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Pedigree

Age at visit: 7 years
Age at visit: 11 years
Age at visit: 14 years
Age at visit: 16 years
Age at visit: 18 years
Age at visit: 20 years
Age at visit: 24 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Leber Congenital Amaurosis CEP290 IVS26+1655 A>G Glu1483 del4gAGAA AR
Gene:
Allele 1:
IVS26+1655 A>G
Allele 2:
Glu1483 del4gAGAA
Inheritance:
AR
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