256000.1

United Arab Emirates

Developmental regression; Abnormal facial shape; Esotropia; Chorioretinal atrophy; Seizure; Left ventricular hypertrophy; Renal insufficiency

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NC_012920.1:m.13513G>A			Leigh Syndrome

56-59% heteroplasmy