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StoneRounds Disease Atlas SR2703

SR2703

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Tuberous Sclerosis (IIID3)

Male

Male

SR2703

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Tuberous Sclerosis (IIID3)

Male

Male

Highlighted Images

Age at visit: 8 years
OD OS
20/25 +2 sc
20/20 -2 sc

Pedigree

Age at visit: 4 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 5 years
Age at visit: 8 years
Age at visit: 9 years
Age at visit: 10 years
Age at visit: 11 years
Age at visit: 12 years
Age at visit: 14 years
Age at visit: 15 years
Age at visit: 16 years
Age at visit: 17 years
Age at visit: 18 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Tuberous Sclerosis TSC2 Glu1513Stop GAG>TAG   AD
Disease:
Tuberous Sclerosis
Gene:
TSC2
Allele 1:
Glu1513Stop GAG>TAG
Allele 2:
 
Inheritance:
AD
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