Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001039958.2:c.500_503dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608681.1.1 | Lebanon | Neonatal short-trunk short stature; Short neck | Male | No | Yes | |
| 608681.1.2 | Lebanon | Neonatal short-trunk short stature; Short neck | Female | No | Yes | sibling of the proband 608681.1.1 |
| 608681.1.3 | Lebanon | Female | No | Healthy mother of the affected siblings 608681.1.1 and 608681.1.2. |