Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014694.3:c.938T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231050.1.1 | United Arab Emirates; Yemen | Short stature; Tip-toe gait; Upslanted palpebral fissure; Capillary hemangioma; Short nose; Long philtrum; Smooth philtrum; Thin upper lip vermilion; Small hand; Short foot; Short finger; Short toe; Limited elbow movement; Limitation of movement at ankles | Female | No | Yes | The patient belongs to an Emirati family of Yemeni origin |
| 231050.1.3 | United Arab Emirates; Yemen | Female | Mother of 231050.1.1 |