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610188.2
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Renal cyst
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_025114.4:c.5668G>T
2
Joubert Syndrome 5
NM_025114.4:c.3775_3776delAG
2
Joubert Syndrome 5
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Remarks
Has a similarly affected sibling
References
Al-Hamed et al. 2016
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