615986.1.1

Lebanon

Reduced visual acuity; Rod-cone dystrophy; Truncal obesity; Global developmental delay; Hypodontia; Hepatic fibrosis; Postural instability

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_198428.3:c.2258A>T	2		Bardet-Biedl Syndrome 9

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615986.1.2	Lebanon		Male			Father of 615986.1.1
615986.1.3	Lebanon		Female			Mother of 615986.1.1