Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_145698.4:c.626-689_937-234delins936+1075_c.936+1230inv | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618863.1 | United Arab Emirates | Global developmental delay; Ataxia; Nystagmus; Obesity | Male | Yes | Yes | Similarly affected sister |