242840.5

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Country

United Arab Emirates

HPO Terms

Agenesis of corpus callosum; Cataract; Breast carcinoma; Pallor; Cardiomyopathy; Profound global developmental delay; Failure to thrive; Microcephaly
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Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020964.3:c.1249C>T2
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.