Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006031.5:c.5767C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210720.2.1 | Oman | Global developmental delay; Failure to thrive | Male | Yes | Patient 'P3' in the publication | |
| 210720.2.2 | Oman | Male | Yes | Father of 210720.2.1 |