NM_016464.5:c.128+5G>A

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
614465.1.1	United Arab Emirates	2	Pathogenic	Joubert Syndrome 16	Ben-Salem et al. 2014; Lee et al. 2012
614465.1.2	United Arab Emirates	2	Pathogenic	Joubert Syndrome 16	Ben-Salem et al. 2014; Lee et al. 2012	Sibling of 614465.1.1
614465.2.1	United Arab Emirates	2	Pathogenic	Joubert Syndrome 16	Ben-Salem et al. 2014; Lee et al. 2012
614465.2.2	United Arab Emirates	2	Pathogenic	Joubert Syndrome 16	Ben-Salem et al. 2014; Lee et al. 2012	Sibling of 614465.2.1
614465.2.3	United Arab Emirates	2	Pathogenic	Joubert Syndrome 16	Ben-Salem et al. 2014; Lee et al. 2012	Sibling of 614465.2.1
614465.9.1	United Arab Emirates	2	Pathogenic	Joubert Syndrome 16	Bizzari et al. 2017	Has a similarly affected sister
614465.9.2	United Arab Emirates	1	Pathogenic		Bizzari et al. 2017	Father of 614465.9.1
614465.9.3	United Arab Emirates	1	Pathogenic		Bizzari et al. 2017	Mother of 614465.9.1

Epidemiology in the Arab World