615777.1

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  2. Subject Details

Country

United Arab Emirates

HPO Terms

Short long bone; Monkey wrench femoral neck; Flat face; Depressed nasal bridge; Long philtrum; Smooth philtrum; Distal joint laxity; Hyperlordosis
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_022166.3:c.2169dup2
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Remarks

Patient had a stillborn sibling with a similar phenotype

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615777.1.2United Arab EmiratesMaleFather of 615777.1.1
615777.1.3United Arab EmiratesFemaleMother of 615777.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.