Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016941.4:c.1136G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277300.4.2 | Saudi Arabia | Neonatal respiratory distress; Kyphoscoliosis; Genu recurvatum; Hemivertebrae | Female | Yes | Yes | Relative of 277300.4.1 |