Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005522.5:c.175dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601536.2.1 | Saudi Arabia | Hearing impairment; Motor delay | Female | Yes | Yes | Patient from 'family/pedigree LF' in the publication |
| 601536.2.G | Saudi Arabia | Relatives of 601536.2.1 (parents + 2 brothers). |