NM_173630.4:c.5746-20A>G

Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
614833.1.1	Saudi Arabia	2		Pathogenic	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures	Shaheen et al. 2019
614833.1.2	Saudi Arabia	2		Pathogenic	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures	Shaheen et al. 2019	Relative of 614833.1.1