Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173630.4:c.3190A>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614833.3 | Saudi Arabia | Delayed CNS myelination; Convex nasal ridge; Long philtrum; Micrognathia; Wide intermamillary distance; Broad thumb | Male | No | Yes |