Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000187.3:c.566G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 203500.2.2 | Algeria | Ochronosis; Arthropathy; | Female | Yes | Yes | Sister of 203500.2.1 |