Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006031.6:c.2984_2994del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210720.4.1 | Palestine | Global developmental delay; Failure to thrive; Moyamoya phenomenon | Male | Yes | Patient 'P14' in the publication | |
| 210720.4.2 | Palestine | Male | Yes | Father of 210720.4.1 |