Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_147127.5:c.981delG | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 225500.5.1 | Egypt | 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; Atrioventricular canal defect | Female | Yes | No | |
| 225500.5.3 | Egypt | Female | No | No | Mother of 225500.5.1 |