615984.3.2

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_176824.3:c.602-2A>T2

Remarks

Sibling of 615984.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615984.3.1Saudi ArabiaObesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shapeFemaleYesYes
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