615989.3

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 NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_152618.3:c.1993GTT[1]2
NM_024649.5:c.889C>T1

Remarks

"BBS-F028-A" in the publication
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