614019.4.1

Country

Saudi Arabia

HPO Terms

Dysplastic corpus callosum; Colpocephaly ; Pachygyria; Abnormality of neuronal migration; Intrauterine growth retardation
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017668.3:c.658C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614019.4.2Saudi ArabiaMaleYesYesRelative of 614019.4.1
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