Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_174878.3:c.188A>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
276902.5.1 | Lebanon | Rod-cone dystrophy; Sensorineural hearing impairment | Female | No | No | |
276902.5.3 | Lebanon | Female | Mother of 276902.5.1 |