615983.G.3

Saudi Arabia

Retinal dystrophy

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_152384.3:c.966dup	4+		Bardet-Biedl syndrome 5

Family with unknown number of affected members

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615983.G.2	Saudi Arabia	Obesity; Intellectual disability; Hydronephrosis; Polydactyly; Anosmia; Abnormal facial shape; Hepatic steatosis	Female	Yes	Yes	Four affected members of a family