143095.5

Country

Morocco

HPO Terms

Intrauterine growth retardation; Short stature; Accelerated skeletal maturation; Congenital knee dislocation; Congenital hip dislocation; Dislocated radial head; Limited elbow extension; Scoliosis

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Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004273.5:c.1_1440del	2		Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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References

Ranza et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
143095.4	Morocco	Short stature; Knee dislocation; Congenital bilateral hip dislocation; Downslanted palpebral fissures	Female		Yes
143095.6	Morocco	Growth delay; Joint dislocation; Talipes equinovarus; Limited elbow extension; Camptodactyly			Yes