212140.4.1

Country

Saudi Arabia

HPO Terms

Recurrent upper respiratory tract infections; Dilated cardiomyopathy; Cardiomegaly; Tachycardia; Failure to thrive; Recurrent gastroenteritis; Increased muscle lipid content; Ragged-red muscle fibers

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003060.3:c.760C>T	2	NA	Carnitine Deficiency, Systemic Primary

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References

Lamhonwah et al. 2004

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
212140.4.2	Saudi Arabia		Male	No		Father of 212140.4.1
212140.4.3	Saudi Arabia		Female	No		Mother of 212140.4.1