Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015404.4:c.1267C>T | 1 | |||
| NM_000260.4:c.5660C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600060.3.2 | United Arab Emirates | Infantile sensorineural hearing impairment; Intellectual disability; Spastic paraplegia | Male | Yes | Sibling of 600060.3.1 | |
| 600060.3.3 | United Arab Emirates | Infantile sensorineural hearing impairment | Male | Yes | Sibling of 600060.3.1 | |
| 600060.3.4 | United Arab Emirates | Congenital sensorineural hearing impairment | Male | Yes | First cousin once removed of 600060.3.1 | |
| 600060.3.5 | United Arab Emirates | Congenital sensorineural hearing impairment | Female | Yes | Sibling of 600060.3.4 | |
| 600060.3.6 | United Arab Emirates | Congenital sensorineural hearing impairment | Female | Yes | Sibling of 600060.3.4 |