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222600.1.1
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Subject Details
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
Diastrophic Dysplasia
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Remarks
Similarly affected sister
References
Mégarbané et al., 1999;
Mégarbané et al. 2002e
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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