615981.1.1

Lebanon

Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_031885.4:c.416G>T	2		Bardet-Biedl Syndrome 2

She belongs to the same large consanguineous family as 615987.1.01

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615981.1.2	Lebanon	Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment	Female	Yes	Yes	Sister of 615981.1.1