Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018136.5:c.2389C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608716.1.1 | Algeria | Microcephaly; Simplified gyral pattern; Intellectual disability, profound | Male | Yes | Yes | |
| 608716.1.2 | Algeria | Microcephaly; Simplified gyral pattern; Intellectual disability, mild | Male | Yes | Yes | Sibling of 608716.1.1 |
| 608716.1.3 | Algeria | Microcephaly; Simplified gyral pattern; Intellectual disability, moderate | Female | Yes | Yes | Sibling of 608716.1.1 |
| 608716.1.5 | Algeria | Male | Father of 608716.1.1 |