215700.G.8

Country

Iraq

HPO Terms

Hyperammonemia
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_054012.4:c.847G>A4+

Remarks

Family with unknown number of affected members, "all of them presenting with a severe clinical outcome".
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