Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004625.4:c.610G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 276820.4.1 | Saudi Arabia | Aplasia/hypoplasia of the extremities; Abnormal thorax morphology; Abnormal pelvic girdle bone morphology; Hydronephrosis | Female | Yes | Yes | Proband from the large family mentioned in the publication. |
| 276820.4.2 | Saudi Arabia | Aplasia/hypoplasia of the extremities; Abnormal thorax morphology; Aplasia of the uterus; Absent hair; Abnormal pelvic girdle bone morphology | Female | Yes | Yes | Relative of 276821.4.1 |