| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005522.5:c.175dup | 7 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601536.3.1 | Saudi Arabia | Hearing impairment; Motor delay; Pendular nystagmus | Female | Yes | Yes | Patient from 'family/pedigree LG' in the publication |
| 601536.3.2 | Saudi Arabia | Hearing impairment; Motor delay; Chronic constipation; Facial grimacing; Abnormal location of ears | Female | Yes | Yes | Sister of 601536.3.1 |