215700.2.1

Country

Lebanon

HPO Terms

Death in infancy; Hyperammonemia; EEG abnormality; Hypotonia; Hypertonia; Spasticity; Ankle clonus; Respiratory distress; Confusion; Irritability; Lethargy

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_054012.4:c.286C>A	2	Citrullinemia, Classic

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References

Daou et al. 2023

Related Subjects

Subject Id	Country	Sex	Remarks
215700.2.2	Lebanon	Male	Father of 215700.2.1
215700.2.3	Lebanon	Female	Mother of 215700.2.1

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Country

HPO Terms

Sex

Family History

Parental Consanguinity

Subject Variants

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References

Related Subjects

© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.