619639.2.1

Country

Iraq

HPO Terms

Intellectual disability, severe; Poor speech; Seizure; Aggressive behavior
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001204077.2:c.631C>T2NA

Remarks

Patient from 'family D' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619639.2.2IraqMaleFather of 619639.2.1
619639.2.3IraqFemaleMother of 619639.2.1
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