Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024884.2:c.164G>A | 1 | NA | ||
| NM_024884.2:c.1115delT | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236792.3.1 | Lebanon | Global developmental delay; Hypothyroidism | Male | Yes | Yes | Patient from family 'F6' in the publication |