Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_139057.3:c.652del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613195.1.2 | Saudi Arabia | Short stature; Abnormality of the eye | Male | Yes | Yes | Brother of 613195.1.1 |