615987.3.1

Country

Oman

HPO Terms

Bardet-Biedl syndrome
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.4:c.1091del

Remarks

Proband of an affected family
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