619055.1.1

Country

Lebanon

HPO Terms

Infectious encephalitis; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Seizure; Apneic episodes in infancy; Death in infancy;
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001171155.2:c.3G>C2

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619055.1.2LebanonMaleNoUnaffected father of 619055.1.1
619055.1.3LebanonFemaleNoUnaffected mother of 619055.1.1
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