Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000187.3:c.175del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 203500.6.1 | United Arab Emirates | Unknown | Yes | Has two affected siblings; parents and two sibllings are carriers | ||
| 203500.6.3 | United Arab Emirates | Female | Yes | Sister of 203500.6.1 |