201450.G.1.2

Saudi Arabia

Abnormal circulating carnitine concentration

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000016.6:c.347G>A	2		Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of
NM_000016.6:c.362C>T	2		Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of

2 compound heterozygous patients with MCAD deficiency

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
201450.G.1.1	Saudi Arabia	Abnormal circulating carnitine concentration	Unknown			18 patients with MCAD deficiency