Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000088.4:c.2127+2T>A | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
166200.3.1 | Saudi Arabia | Osteopenia; Recurrent fractures; Tibial bowing; Bowing of the legs | Male | Yes | Patient's parents are from the same tribe. |