Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017890.4:c.7934G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216550.1.1 | Oman | Microcephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility; | Female | Yes | Yes | Sibling of 216550.1.2 and 216550.1.3 |
| 216550.1.3 | Oman | Microcephaly; Global developmental delay; Myopia; Retinopathy; Narrow foot; Narrow palm; Joint hypermobility; | Male | Yes | Yes | Sibling of 216550.1.1 and 216550.1.2 |