610090.3

Country

United Arab Emirates

HPO Terms

Seizure; Global developmental delay
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018129.4:c.674G>T2

Remarks

Belongs to the same tribe as 610090.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610090.2United Arab EmiratesSeizureMaleYesPatient had a brother with intractable epilepsy and global developmental delay who passed away at 19 months of age, presumably with the same mutation. Belongs to the same tribe as 610090.1.1.
610090.4United Arab EmiratesSeizure; Infantile spasmsFemaleYesBelongs to the same tribe as 610090.1.1
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