Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018418.5:c.960dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604232.3 | Saudi Arabia | Retinal dystrophy; Delayed speech and language development; Hearing impairment; Abnormal facial shape | Female | No | Yes |