NM_012200.4:c.830G>A

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
245600.1	United Arab Emirates	2	Pathogenic	Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	von Oettingen et al. 2014
245600.2.1	United Arab Emirates	2	Pathogenic	Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Baasanjav et al. 2011
245600.2.2	United Arab Emirates	2	Pathogenic	Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Baasanjav et al. 2011	Sister of 245600.2.1
245600.2.3	United Arab Emirates	2	Pathogenic	Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Baasanjav et al. 2011	Brother of 245600.2.1
245600.2.4	United Arab Emirates	2	Pathogenic	Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Baasanjav et al. 2011	Sister of 245600.2.1
245600.2.5	United Arab Emirates	2	Pathogenic	Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Baasanjav et al. 2011	Brother of 245600.2.1

Epidemiology in the Arab World