130070.1.2

Country

Qatar

HPO Terms

Abnormal facial shape; Global developmental delay; Hypermobility of interphalangeal joints; Radioulnar synostosis; Short clavicles; Osteopenia; Equinovarus deformity

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_007255.3:c.808C>T	2		Ehlers-Danlos syndrome, spondylodysplastic type, 1

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Remarks

Paternal uncle of 130070.1.1

References

Faiyaz-Ul-Haque et al. 2004

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
130070.1.1	Qatar	Abnormal facial shape; Global developmental delay; Hypermobility of interphalangeal joints; Radioulnar synostosis; Short clavicles; Osteopenia	Female	Yes	Yes