Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012205.3:c.483dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617660.1.1 | Iraq | Vertebral segmentation defect; Atrial septal defect; Renal hypoplasia; Vesicoureteral reflux; Sensorineural hearing impairment; Talipes; Intellectual disability | Male | No | Yes | |
| 617660.1.3 | Iraq | Female | No | Mother of 617660.1.1 |