615987.G.1

Country

Oman

HPO Terms

Bardet-Biedl syndrome
Back to search Result
Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.4:c.271dup4+

Remarks

Unknown number of affected individuals from two unrelated families

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615987.G.3OmanRetinal dystrophyUnknownNoFamily with unknown number of affected members
Back to search Result
© CAGS 2024. All rights reserved.