100800.1.1

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  2. Subject Details

Country

Arab

HPO Terms

Disproportionate short stature; Macrocephaly; Abnormality of the skull base; Midface retrusion; Depressed nasal bridge; Hyperlordosis; Small hand; Limited elbow extension
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Sex

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000142.5:c.1138G>A1
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References

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