Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080605.4:c.556T>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 271640.2.1 | Saudi Arabia | Delayed gross motor development; Osteopenia; Abnormal facial shape; Micrognathia | Male | Yes | Yes |