Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012205.3:c.558G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617660.2.1 | Lebanon | Vertebral segmentation defect; Hypoplastic left heart; Renal hypoplasia; Sensorineural hearing impairment | Female | No | Yes | |
| 617660.2.2 | Lebanon | Female | Mother of 617660.2.1 |