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245600.3
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Subject Details
Country
Tunisia
HPO Terms
Intrauterine growth retardation; Short stature; Genu recurvatum; Platyspondyly; Monkey wrench femoral neck; Talipes equinovarus; Intellectual disability
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Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_012200.4:c.416=
2
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
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References
Ranza et al. 2017
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