614378.2

Country

Saudi Arabia

HPO Terms

Renal insufficiency; Oral cleft; Abnormal facial shape; Bifid nose; Short nose; Microdontia
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_025132.4:c.2585T>C2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614378.1Saudi ArabiaRod-cone dystrophyFemaleYes
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