615398.1

Country

Libya

HPO Terms

Bilateral tonic-clonic seizure with focal onset; Global developmental delay; Neonatal hypotonia; Delayed speech and language development; Cerebral atrophy; Cerebellar hypoplasia; Lateral ventricle dilatation; Spastic tetraparesis; Broad forehead; Secondary microcephaly; Deeply set eye; Epicanthus; High palate

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015937.6:c.1519C>T	2		Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

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References

Ben Ayed et al. 2023