209900.6.2

Saudi Arabia

Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Abnormality of the kidney; Round face; External genital hypoplasia

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024649.5:c.951+58C>T	2		Bardet-Biedl Syndrome 1

Sibling of 209900.6.1 "BBS-F014-A" in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
209900.6.1	Saudi Arabia	Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Hearing impairment; Round face; External genital hypoplasia	Male	Yes	Yes	"BBS-F014-A" in the publication