615987.7.2

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Hearing impairment; Abnormal facial shape; Abnormal left ventricle morphology; 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_024685.3:c.1736A>G	2		Bardet-Biedl Syndrome 10

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Remarks

Sibling of 615987.7.1

References

Aldahmesh et al. 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615987.7.1	Saudi Arabia	Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Amenorrhea	Female	Yes	Yes