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 Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_170784.3:c.1646T>C	2		Bardet-Biedl syndrome 6

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Remarks

Sibling of 605231.4.1

References

Aldahmesh et al. 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
605231.4.1	Saudi Arabia	Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Ventricular septal defect	Female	Yes	Yes
605231.4.3	Saudi Arabia	Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Chronic kidney disease; Abnormality of the genital system; Patent ductus arteriosus	Male	Yes	Yes	Sibling of 605231.4.1