615595.1.1

Lebanon; Syria

Failure to thrive in infancy; Stridor; Respiratory distress; Lactic acidosis; Hypotonia

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020408.6:c.203G>T	2		Combined Oxidative Phosphorylation Deficiency 19

Proband from a Lebanese-Syrian family

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615595.1.2	Lebanon; Syria	Failure to thrive in infancy; Respiratory distress; Stridor; Lactic acidosis; Hepatomegaly; Death in infancy	Female	Yes	Yes	Double first cousin of 615595.1.1