163950.5

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Country

United Arab Emirates

HPO Terms

Abnormal facial shape; Global developmental delay; Failure to thrive; Pulmonic stenosis
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001330437.1:c.922A>G1
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Remarks

de novo mutation

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
163950.3United Arab EmiratesMale
163950.4United Arab EmiratesMale
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.