605231.4.2

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Chronic kidney disease; Atrial septal defect; Abnormality of the genital system
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_170784.3:c.1646T>C2

Remarks

Sibling of 605231.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
605231.4.1Saudi ArabiaObesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Ventricular septal defectFemaleYesYes
605231.4.3Saudi ArabiaObesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Chronic kidney disease; Abnormality of the genital system; Patent ductus arteriosusMaleYesYesSibling of 605231.4.1
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