615574.8.1

Country

Saudi Arabia

HPO Terms

Seizure; EEG abnormality ; Severe global developmental delay
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001673.5:c.1193A>G2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615574.8.2Saudi ArabiaFemaleYesNoRelative of 615574.8.1
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