615989.G.1

Saudi Arabia

Obesity; Intellectual disability; Sectoral retinitis pigmentosa; Polydactyly; Abnormal facial shape

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_152618.3:c.787dup	2		Bardet-Biedl Syndrome 12

Four affected members in a family; 2 males and 2 females