215700.3.1

Country

Syria

HPO Terms

Death in infancy; Hyperammonemia; Abnormal liver physiology; EEG abnormality
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Sex

Unknown

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_054012.4:c.685_688+6del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
215700.3.2SyriaMaleFather of 215700.3.1
215700.3.3SyriaFemaleMother of 215700.3.1
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