265800.2.1

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Country

United Arab Emirates

HPO Terms

Skeletal dysplasia; Wormian bones; Short stature; Small sella turcica
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000396.3:c.338del2
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Remarks

Proband

References

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