Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000512.5:c.346G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253000.2.2 | Saudi Arabia | Global developmental delay; Scoliosis; Short stature; Myopia; Short neck; Malar flattening | Male | Yes | Yes | Relative of 253000.2.1 |