619055.2.1

Country

Lebanon

HPO Terms

Global developmental delay; Hypotonia; Seizure; Status epilepticus; Failure to thrive; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Death in infancy

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Sex

Male

Family History

Parental Consanguinity

Yes

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 four older siblings that had died within the first year of life without clear diagnoses but all had developmental delay and seizures.

References

Lim et al, 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619055.2.2	Lebanon		Male	No		Unaffected father of 619055.2.1
619055.2.3	Lebanon		Female	No		Unaffected mother of 619055.2.1