312170.1

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Country

United Arab Emirates

HPO Terms

Global developmental delay; Dysphagia; Decreased activity of mitochondrial complex II
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Sex

Female

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000284.4:c.787C>G1
NM_004168.4:c.321C>G1
NM_004168.4:c.338A>T1
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.