619055.12

Lebanon

Congenital lactic acidosis; Cardiomyopathy; Decreased activity of mitochondrial complex IV; Death in infancy

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001171155.2:c.3G>C	2		Mitochondrial Complex IV Deficiency, Nuclear Type 12

Proband. Parents are first cousins. A paternal first cousin was diagnosed with mitochondrial complex IV deficiency in skin fibroblasts.