Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153717.3:c.1813C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 225500.3.1 | Sudan | Short upper lip; Short lingual frenulum; Abnormality of the alveolar ridges; Natal tooth; Short nose; Long philtrum; Hand polydactyly; Mesomelia; Narrow chest; Aplasia/Hypoplasia of the nails; Short ribs; Short iliac bones | Female | Yes | Yes | Patient was diagnosed prenatally by ultrasound |
| 225500.3.3 | Sudan | Female | Yes | Yes | Mother of 225500.3.1 |