614946.1

Country

Lebanon

HPO Terms

Focal clonic seizure; skeletal muscle fibrosis

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001318872.2:c.589G>A	1		Combined Oxidative Phosphorylation Deficiency 14

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Remarks

Hemizygous mutation in a compound heterozygous state with a deletion of exon 2 in one of the parent copies and a point mutation in exon 2 of the second copy

References

Hotait et al. 2020