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615990.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Hydronephrosis; Obesity; Polydactyly; Cirrhosis; Allergy
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_017777.4:c.-46_80del
2
NA
Bardet-Biedl Syndrome 13
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References
Maddirevula et al. 2018
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