614739.G.1.1

Country

Tunisia

HPO Terms

Respiratory distress; Infantile onset

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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_032861.4:c.1379G>A	6	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome

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Remarks

Three siblings (two males; one female). Male patients died during neonatal period due to severe respiratory distress. Female patient died at age of two years.

References

Felhi et al. 2022

Related Subjects

Subject Id	Country	Remarks
614739.G.1.2	Tunisia	Unaffected parents of 614739.G.1.1