Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001350933.2:c.583-2379_583-2129del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601067.2 | United Arab Emirates | Profound sensorineural hearing impairment; Abnormality of retinal pigmentation; Recurrent ear infections; Recurrent fever; Inguinal hernia; Asthma | Male | Yes |