615982.2.1

Saudi Arabia

Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; Bicuspid aortic valve; External genital hypoplasia

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_033028.4:c.157-2A>G	2		Bardet-Biedl Syndrome 4

"BBS-F005-A" in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615982.2.2	Saudi Arabia	Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia	Male	Yes	Yes	Sibling of 615982.2.1 "BBS-F005-B" in the publication