Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000478.6:c.815G>T | 1 | NA | ||
| NM_000478.6:c.874C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 241500.2.1 | Egypt | Stillbirth | Male | Yes | Yes | Patient 'HPP48' in the publication. |
| 241500.2.3 | Egypt | Recurrent fractures; Increased susceptibility to fractures | Female | Yes | Yes | Sister of 241500.2.1 (Patient 'HPP50' in the publication). |