NM_001013663.2:c.365G>A

Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
613610.1.1	Saudi Arabia	2	Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified	Maddirevula et al. 2018; Maddirevula et al. 2020
613610.1.2	Saudi Arabia	2	Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified	Maddirevula et al. 2018; Maddirevula et al. 2020	Sister of 613610.1.1
613610.1.3	Saudi Arabia	1			Maddirevula et al. 2020	Father of 613610.1.1
613610.1.4	Saudi Arabia	1			Maddirevula et al. 2020	Mother of 613610.1.1
617342.1.1	Saudi Arabia	2	Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified	Maddirevula et al. 2020
617342.1.2	Saudi Arabia	2	Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified	Maddirevula et al. 2020	Brother of 617342.1.1
617342.1.3	Saudi Arabia	2	Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified	Maddirevula et al. 2020	Brother of 617342.1.1
617342.1.4	Saudi Arabia	1			Maddirevula et al. 2020	Father of 617342.1.1
617342.1.5	Saudi Arabia	1			Maddirevula et al. 2020	Mother of 617342.1.1
617342.2.1	Saudi Arabia	2	Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified	Maddirevula et al. 2020
617342.2.2	Saudi Arabia	2	Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified	Maddirevula et al. 2020	Sister of 617342.2.1
617342.2.G.1	Saudi Arabia	5			Maddirevula et al. 2020	Father, mother and 3 brothers of 617342....