619055.10.1

Country

Lebanon

HPO Terms

Seizure; Global developmental delay; Hypotonia; Increased serum lactate; EEG abnormality; Bilateral basal ganglia lesions; Hyperintensity of cerebral white matter on MRI

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Sex

Female

Family History

Yes

Parental Consanguinity

Subject Variants

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

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Remarks

Proband from 'Family A' in the publication, died at the age of 2 years and 1 month

References

Mansour et al, 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619055.10.2	Lebanon	Global developmental delay; EEG abnormality	Male	Yes	No	Brother of proband ('Family A' in the publication)
619055.10.3	Lebanon		Male		No	Father of proband ('Family A' in the publication)
619055.10.4	Lebanon		Female		No	Mother of proband ('Family A' in the publication)