215700.G.7

Country

Lebanon

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.535T>C2+
NM_000050.4:c.787G>A2+

Remarks

Family with unknown number of affected members with a mild clinical presentation
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