619055.3.1

Country

Lebanon

HPO Terms

Circumoral cyanosis; Lamellar cataract; Seizure; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Increased serum pyruvate; Thoracic scoliosis; Recurrent respiratory infections; Vegetative state

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001171155.2:c.3G>C	2		Mitochondrial Complex IV Deficiency, Nuclear Type 12

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Remarks

The patient had an older brother suggested to have Rolandic seizures.

References

Lim et al, 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619055.3.2	Lebanon		Male	No		Unaffected father of 619055.3.1
619055.3.3	Lebanon		Female	No		Unaffected mother of 619055.3.1