No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007317.3:c.443C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603546.1 | Algeria | Short stature; Skeletal dysplasia; Joint laxity | Unknown | de novo mutation |