245600.1

Country

United Arab Emirates

HPO Terms

Joint laxity; Multiple joint dislocation; Short stature; Abnormal facial shape; Aortic root aneurysm; Pulmonary artery dilatation; Global developmental delay; Abnormality of refraction; Carious teeth; Atlantoaxial instability; Pectus carinatum; Genu valgum; Palmoplantar cutis laxa; Pes planus

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_012200.4:c.830G>A	2		Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects

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References

von Oettingen et al. 2014