619055.8.1

Lebanon

Motor delay; Increased CSF lactate; Increased serum lactate; Increased serum pyruvate; Cerebral visual impairment; Death in childhood

Male

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619055.8.2	Lebanon		Male	No		Unaffected father of 619055.8.1
619055.8.3	Lebanon		Female	No		Unaffected mother of 619055.8.1