Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_013296.4:c.379C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604213.1.1 | Palestine | Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | Female | Yes | Yes | Parents and 2 unaffected siblings were heterozygous |
| 604213.1.2 | Palestine | Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | Male | Yes | Yes | Sibling of 604213.1.1 |
| 604213.1.3 | Palestine | Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | Male | Yes | Yes | Sibling of 604213.1.1 |
| 604213.1.4 | Palestine | Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | Male | Yes | Yes | First cousin of 604213.1.1. Parents and an unaffected sibling were heterozygous |
| 604213.1.5 | Palestine | Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | Female | Yes | Yes | First cousin of 604213.1.1 |
| 604213.1.7 | Palestine | Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment | Male | Yes | Yes | First cousin once removed of 604213.1.1; Parents were heterozygous |