Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_152281.3:c.231dup | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
231070.11.2 | Saudi Arabia | Osteopenia; Recurrent fractures | Male | Yes | No | Relative of 231070.11.1 |