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616204.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Abnormal hindbrain morphology
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NC_000004.11:g.(?_93978239)_(94078203_?)del
2
Spinocerebellar Ataxia, Autosomal Recessive 18
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Remarks
Proband from 'family 041' in the publication
References
Charng et al. 2016
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