Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_052845.4:c.197-1G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251110.1 | United Arab Emirates | Hypotonia; Global developmental delay; Scoliosis; Short stature | Female | No | Yes |