Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003995.3:c.2304_2307delTTGGinsCTGATGGA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 602875.2.1 | Lebanon | Short stature; Severe short-limb dwarfism; | Unknown | No | Yes | This patient may have other affected siblings. |
| 602875.2.2 | Lebanon | Female | No | Mother of patient 602875.2.1 |