615349.2

Country

Sudan

HPO Terms

Short stature; Failure to thrive; Congenital hip dislocation; Camptodactyly of finger; Monkey wrench femoral neck; Kyphoscoliosis; Talipes equinovarus; Malar flattening; Narrow mouth; Proptosis

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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_080605.4:c.845_846delinsTA	2		Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

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References

Ranza et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615349.1	Sudan	Multiple joint dislocation; Distal arthrogryposis; Aortic valve stenosis; Prominent forehead	Female	Yes	Yes