608716.6.2

Country

Lebanon

HPO Terms

Microcephaly; Bilateral tonic-clonic seizure
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Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018136.5:c.9686_9690del2

Remarks

Sibling of 608716.6.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
608716.6.1LebanonMicrocephalyMaleNoProband
608716.6.3LebanonMicrocephaly; Bilateral tonic-clonic seizureFemaleNoSibling of 608716.6.1
608716.6.4LebanonMicrocephalyMaleNoSibling of 608716.6.1
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