615989.4.2

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; 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_152618.3:c.2041_2049del	2		Bardet-Biedl Syndrome 12

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Remarks

Sibling of 615989.4.1

References

Aldahmesh et al. 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615989.4.1	Saudi Arabia	Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape; Abnormality of the genital system	Male	Yes	Yes