209900.7

Saudi Arabia

Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; External genital hypoplasia

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024649.5:c.124+1G>A	2		Bardet-Biedl Syndrome 1
NM_033028.5:c.1107-45T>C	1

"BBS-F016-A" in the publication