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 |
|---|---|---|---|---|---|---|
| 601536.1.2 | Saudi Arabia | Hearing impairment; Motor delay; Polydactyly; Brachydactyly; Ureteral duplication; Urethral stricture | Male | Yes | Yes | Brother of 601536.1.1 |
| 601536.1.3 | Saudi Arabia | Hearing impairment; Motor delay; Autistic behavior; Abnormal helix morphology; Abnormal facial shape; Facial grimacing | Male | Yes | Yes | Brother of 601536.1.1 |
| 601536.1.4 | Saudi Arabia | Male | Father of 601536.1.1 |