611251.1.2

Country

Jordan

HPO Terms

Intellectual disability, mild; Seizure
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020780.2:c.3555C>T2

Remarks

Sibling of 611251.1.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
611251.1.1JordanIntellectual disability, mild; Seizure; Delayed gross motor developmentMaleYesYes
611251.1.3JordanIntellectual disability, mild; Seizure; Delayed gross motor development; Delayed speech and language developmentMaleYesYesSibling of 611251.1.1
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