616258.1

Country

United Arab Emirates

HPO Terms

Microcephaly; Agenesis of corpus callosum; Pachygyria; Delayed speech and language development
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014875.3:c.4475del2
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