251200.2.1

Country

Saudi Arabia

HPO Terms

Global developmental delay; Lissencephaly; Abnormality of neuronal migration
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024596.4:c.1_114del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
251200.2.2Saudi ArabiaGlobal developmental delay; Lissencephaly; Abnormality of neuronal migrationMaleYesYesRelative of 251200.2.1
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