268800.7.1

Country

Saudi Arabia

HPO Terms

Abnormal cerebral cortex morphology
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000521.4:c.170G>A2

Remarks

Proband from 'family 002' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
268800.7.2Saudi ArabiaMaleFather of 268800.7.1
268800.7.3Saudi ArabiaFemaleMother of 268800.7.1
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