615984.3.1

Saudi Arabia

Obesity; Intellectual disability; Chronic kidney disease; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_176824.3:c.602-2A>T	2		Bardet-Biedl Syndrome 7

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615984.3.2	Saudi Arabia	Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape	Female	Yes	Yes	Sibling of 615984.3.1