Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001145320.1:c.338G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231050.5.1 | Saudi Arabia | Aortic valve stenosis; Neonatal inspiratory stridor; Seizure; Brachydactyly; Limited elbow movement; Rhizomelia; Hypertelorism; Pes planus; Wide intermamillary distance; Depressed nasal bridge | Male | Yes | Yes | Novel variant |