Unknown
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006996.3:c.581C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
249270.4.2 | Saudi Arabia | Progressive sensorineural hearing impairment; Retinal dystrophy | Unknown | Yes | Yes | Sibling of 249270.4.1 |
249270.4.3 | Saudi Arabia | Asymptomatic infant | Unknown | Yes | Yes | Sibling of 249270.4.1 |