617106.1

Country

Lebanon

HPO Terms

Global developmental delay; Agenesis of corpus callosum; Failure to thrive; Generalized-onset seizure; Febrile seizure (within the age range of 3 months to 6 years); Congenital onset; Abnormality of cardiovascular system morphology

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Sex

Female

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000068.4:c.997A>G	1		Developmental and Epileptic Encephalopathy 42

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References

Nair et al. 2018