Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006031.6:c.4976_4980del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210720.5.1 | Lebanon | Global developmental delay; Failure to thrive | Female | Yes | Patient 'P17' in the publication | |
| 210720.5.2 | Lebanon | Male | Yes | Father of 210720.5.1 |