271245.2

Country

United Arab Emirates

HPO Terms

Developmental regression; Hearing impairment; Scoliosis; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex IV

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Sex

Unknown

Family History

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021830.5:c.1198C>T	2		Mitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)

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Remarks

Has two cousins with Leigh disease

References

Al-Shamsi et al. 2016