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StoneRounds Disease Atlas SR39

SR39

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Spinocerebellar Ataxia (IID4)

Male

Male

SR39

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Spinocerebellar Ataxia (IID4)

Male

Male

Highlighted Images

Age at visit: 17 years
OD OS
10/63
10/63

Pedigree

Age at visit: 13 years
Age at visit: 15 years
Age at visit: 17 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Spinocerebellar Ataxia ATXN7 Repeat Expansion   AD
Disease:
Spinocerebellar Ataxia
Gene:
ATXN7
Allele 1:
Repeat Expansion
Allele 2:
 
Inheritance:
AD
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