218340.13.4

Country

Saudi Arabia

HPO Terms

Seizure; Agenesis of corpus callosum
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138425.4:c.1A>G2

Remarks

Sibling of 218340.13.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218340.13.1Saudi ArabiaHypertonia; Chorioretinal coloboma; Seizure; Profound global developmental delay; Bilateral tonic-clonic seizure with generalized onset; Microphthalmia; Agenesis of corpus callosumMaleYesYes
218340.13.2Saudi ArabiaHypertonia; Chorioretinal coloboma; Global developmental delay; Seizure; Poor visual behavior for age; Thick corpus callosumMaleYesYesSibling of 218340.13.1
218340.13.3Saudi ArabiaHypertonia; Seizure; Profound global developmental delayFemaleYesYesSibling of 218340.13.1
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