615983.G.2

Saudi Arabia

Obesity; Intellectual disability; Hydronephrosis; Polydactyly; Anosmia; Abnormal facial shape; Hepatic steatosis

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_152384.3:c.966dup	8		Bardet-Biedl syndrome 5

Four affected members of a family

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615983.G.3	Saudi Arabia	Retinal dystrophy	Unknown	No		Family with unknown number of affected members