Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_139278.4:c.991G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 620007.2.1 | Jordan | Global developmental delay; Intellectual disability, mild | Male | Yes | Yes | Index patient from 'family 4' in the publication |
| 620007.2.2 | Jordan | Global developmental delay; Intellectual disability, mild | Male | Yes | Yes | Brother of 620007.2.1 |
| 620007.2.4 | Jordan | Female | Mother of 620007.2.1 |