Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004004.5:c.35del | 7 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
220290.G.8.1 | Lebanon | Severe sensorineural hearing impairment | 15 families with at least one affected individual |