Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000088.4:c.299-2A>G | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
166200.4.2 | Saudi Arabia | Osteopenia; Recurrent fractures | Female | Yes | No | Relative of 166200.4.1 |