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615981.7
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Retinal dystrophy
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Sex
Unknown
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_031885.5:c.700C>T
2
Bardet-Biedl Syndrome 2
Download Table
References
Patel et al. 2016
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
615981.5
Saudi Arabia
Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; External genital hypoplasia
Male
No
Yes
"BBS-F024-A" in the publication
615981.6
Saudi Arabia
Retinal dystrophy
Unknown
No
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