Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153717.3:c.101dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 225500.7 | Saudi Arabia | Neonatal death; Potter facies; Sloping forehead; Hypertelorism; Low-set ears | Male | Yes | Yes |