Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_013296.4:c.1055C>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604213.2.2 | Yemen | Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment; Hypopigmented skin patches; Partial agenesis of the corpus callosum; Arachnoid cyst; | Male | Yes | Yes | Brother of 604213.2.1 |