Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_147127.5:c.2047-1G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 225500.4.1 | United Arab Emirates | Short upper lip; Short lingual frenulum; Abnormality of the alveolar ridges; Short nose; Long philtrum; Hand polydactyly; Mesomelia; Narrow chest; Aplasia/Hypoplasia of the nails; Short ribs; Short iliac bones; Common atrium | Female | No | Yes | Patient is from an Emirati family of Yemeni origin. She was diagnosed prenatally |
| 225500.4.3 | United Arab Emirates | Female | No | Yes | Mother of 225500.4.1 |