Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173654.3:c.1074del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615297.3.1 | Saudi Arabia | Brachydactyly; Umbilical hernia; Delayed speech and language development; Delayed fine motor development | Male | Yes | Yes |