Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000142.4:c.742C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 187600.3 | United Arab Emirates | Skeletal dysplasia; Depressed nasal bridge; Short neck; Narrow chest | Female | Yes | No | De novo mutation |