Male
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 |
|---|---|---|---|---|---|---|
| 271640.2.2 | Saudi Arabia | Hypotonia; Abnormal facial shape; Cutis laxa; Wide anterior fontanel; Delayed gross motor development | Female | Yes | Yes | Relative of 271640.2.1 |