615987.7.1

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Amenorrhea
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.3:c.1736A>G2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615987.7.2Saudi ArabiaObesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Hearing impairment; Abnormal facial shape; Abnormal left ventricle morphology; Abnormality of the genital systemMaleYesYesSibling of 615987.7.1
Back to search Result
© CAGS 2024. All rights reserved.