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Subject Details
Country
United Arab Emirates
HPO Terms
Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_152618.3:c.1993GTT[1]
2
Bardet-Biedl Syndrome 12
NM_024649.5:c.889C>T
1
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Remarks
"BBS-F028-A" in the publication
References
Abu-Safieh et al. 2012
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