215700.G.9

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.910C>T4+

Remarks

Family with unknown number of affected members with a severe clinical phenotype
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