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615983.3
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Subject Details
Country
United Arab Emirates
HPO Terms
Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_152384.3:c.158C>T
2
Bardet-Biedl syndrome 5
NM_024649.5:c.1684G>A
1
NM_198428.3:c.1693+102G>A
1
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Remarks
"BBS-F030-A" in the publication
References
Abu-Safieh et al. 2012
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