609060.1.1

Lebanon

Metabolic acidosis; Fatal liver failure in infancy; Cholestasis; Hepatic necrosis; Hypoplasia of the corpus callosum; Basal ganglia cysts;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024996.5:c.521A>G	2		Combined Oxidative Phosphorylation Deficiency 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
609060.1.2	Lebanon	Metabolic acidosis; Fatal liver failure in infancy; Global brain atrophy; Hypoplasia of the corpus callosum; Hypertonia;	Male	Yes	Yes	Brother of 609060.1.1
609060.1.3	Lebanon		Female			Mother of 609060.1.1 and 609060.1.2
609060.1.4	Lebanon		Male			Father of 609060.1.1 and 609060.1.2