Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_080605.4:c.530GCC[6] | 2 | NA |
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 |