NM_139278.4:c.1117del

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
620007.3.1	Saudi Arabia	2	NA	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	Marafi et al. 2022b	Index patient from 'family 5A' in the pu...
620007.3.2	Saudi Arabia	2	NA	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	Marafi et al. 2022b	Brother of 620007.3.1
620007.3.3	Saudi Arabia	1	NA			Marafi et al. 2022b	Father of 620007.3.1
620007.3.4	Saudi Arabia	1	NA			Marafi et al. 2022b	Mother of 620007.3.1
620007.4.1	Saudi Arabia	2	NA	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	Marafi et al. 2022b	Index patient from 'family 5B' in the pu...
620007.4.2	Saudi Arabia	2	NA	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	Marafi et al. 2022b	Sister of 620007.4.1
620007.4.3	Saudi Arabia	1	NA			Marafi et al. 2022b	Father of 620007.4.1
620007.4.4	Saudi Arabia	1	NA			Marafi et al. 2022b	Mother of 620007.4.1

Epidemiology in the Arab World