Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001128166.2:c.1279T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300558.1 | United Arab Emirates | Intellectual disability; Macrocephaly; Obesity; Delayed speech and language development; Axial hypotonia | Male |