615987.G.3

Country

Saudi Arabia

HPO Terms

Retinal dystrophy
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Sex

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.4:c.1892_1896del4+

Remarks

Family with unknown number of affected members

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615987.G.1Saudi ArabiaBardet-Biedl syndromeUnknownYesYesUnknown number of affected individuals from two unrelated families
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