300894.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Seizure; Intellectual disability; Developmental regression; Sleep disturbance
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001029896.2:c.19C>T1

Remarks

Father asymptomatic, but has mosaicism

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
300894.2United Arab EmiratesComplex febrile seizure; Global developmental delayFemaleNoYes
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