Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024531.4:c.916G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614707.1.2 | Lebanon | Cranial nerve paralysis; Nystagmus; Hypotonia; Kyphoscoliosis; Sensorineural hearing impairment ; | Male | Yes | Yes | Brother of 614707.1.1 |
| 614707.1.3 | Lebanon | Cranial nerve paralysis; Nystagmus; Hypotonia; Kyphoscoliosis; Sensorineural hearing impairment ; | Female | Yes | Yes | Sister of 614707.1.1 |
| 614707.1.4 | Lebanon | Hypotonia; Sensorineural hearing impairment ; | Male | Yes | Yes | First cousin of 614707.1.1 |