614019.8.1

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Country

Saudi Arabia

HPO Terms

Microcephaly; Seizure; Cerebral hypoplasia; Cerebellar hypoplasia; Agenesis of corpus callosum; Babinski sign
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017668.3:c.733dup2
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Remarks

From Western Saudi Arabia. Patient had an affected sister and parents had three additional pregnancies that resulted in spontaneous abortions

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614019.8.2Saudi ArabiaMaleFather of 614019.8.1
614019.8.3Saudi ArabiaFemaleMother of 614019.8.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.