271640.3

Saudi Arabia

Blue sclerae; Severe short stature; Mitral regurgitation; Joint laxity; Joint dislocation; Kyphosis

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_080605.4:c.530GCC[6]	2	NA	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
271640.1	Saudi Arabia	Recurrent fractures; Delayed gross motor development; Blue sclerae; Short stature; Kyphosis	Female		Yes