617938.1

Country

United Arab Emirates

HPO Terms

Polymicrogyria; Microcephaly; Severe global developmental delay; Generalized hypotonia; Persistent head lag; Spastic tetraplegia; Inability to walk; Absent speech; Feeding difficulties; Drooling; Scoliosis

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006922.4:c.2624T>C	1		Developmental And Epileptic Encephalopathy 62

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References

Smith et al. 2018