| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005522.5:c.175dup | 4 |
| 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 |
| 601536.2.2 | Saudi Arabia | Hearing impairment; Motor delay; Autistic behavior; Chronic constipation; Sleep disturbance; Horizontal pendular nystagmus | Female | Yes | Yes | Sister of 601536.2.1 |