HBRF

222600.1.1

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Country

Lebanon

HPO Terms

Rhizomelia; Platyspondyly; Limited elbow extension; Metaphyseal widening; Fibular overgrowth; Ulnar deviation of finger; Talipes equinovarus;
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_000112.3:c.1361A>C 2
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Remarks

Similarly affected sister

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
222600.1.2 Lebanon Female Mother of 222600.1.1
222600.1.3 Lebanon Male Fatther of 222600.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.