NM_001163435.3:c.1897+1G>A

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
616900.1.1	Saudi Arabia	2		Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	Alazami et al. 2015; Bhoj et al. 2016	Proband also had 4 male double first cou...
616900.1.2	Saudi Arabia	2		Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	Alazami et al. 2015; Bhoj et al. 2016	Sister of 616900.1.1

Epidemiology in the Arab World