NM_139278.4:c.991G>A

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
620007.2.1	Jordan	2	NA	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	Marafi et al. 2022b; Froukh. 2017	Index patient from 'family 4' in the pub...
620007.2.2	Jordan	2	NA	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	Marafi et al. 2022b; Froukh. 2017	Brother of 620007.2.1
620007.2.3	Jordan	1	NA			Marafi et al. 2022b	Father of 620007.2.1
620007.2.4	Jordan	1	NA			Marafi et al. 2022b	Mother of 620007.2.1

Epidemiology in the Arab World