Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014875.3:c.4071G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617914.1.1 | Saudi Arabia | Primary microcephaly; Intellectual disability | Female | Yes | Yes | Patient from 'family 3' in the publication |
| 617914.1.3 | Saudi Arabia | Primary microcephaly; Intellectual disability | Male | Yes | Yes | Brother of 617914.1.1 |