Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004527.4:c.94del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 214300.1.1 | Saudi Arabia | Short neck; Decreased cervical spine mobility | Male | Yes | Yes | |
| 214300.1.3 | Saudi Arabia | Short neck; Decreased cervical spine mobility | Female | Yes | Yes | Relative of 214300.1.1 |