NM_001350748.2:c.2758del

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
615419.10.1	Egypt	2	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	Bramswig et al. 2018
615419.10.2	Egypt	2	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	Bramswig et al. 2018	Sibling of 615419.10.1
615419.11	Egypt	2	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1	Bramswig et al. 2018	Had a similarly affected deceased cousin

Epidemiology in the Arab World