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615983.G.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Obesity; Intellectual disability; Hydronephrosis; Polydactyly; Anosmia; Abnormal facial shape; Hepatic steatosis
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_152384.3:c.966dup
8
Bardet-Biedl syndrome 5
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Remarks
Four affected members of a family
References
Aldahmesh et al. 2014
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