612164.7

Country

United Arab Emirates

HPO Terms

Global developmental delay; Tremor
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001032221.6:c.1099C>T1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612164.1United Arab EmiratesGlobal developmental delay; Seizure; AgitationFemaleNoNode novo mutation
612164.2United Arab EmiratesSeizure; Attention deficit hyperactivity disorderFemaleYesYes
612164.3United Arab EmiratesTonic seizure; Clonic seizure; EEG abnormality; Global developmental delay; Truncal ataxia; AutismMaleNo
612164.4United Arab EmiratesMyoclonic seizure; EEG abnormality; Autistic behaviorMaleNo
612164.5United Arab EmiratesFocal sensory seizure; EEG abnormality; Multifocal epileptiform discharges; Global developmental delayFemale
612164.6United Arab EmiratesInfantile spasms; Dyskinesia; Epileptic encephalopathy; Multifocal epileptiform discharges; Global developmental delayMaleYesYes
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