Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_032119.4:c.10054-2A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
605472.5.1 | United Arab Emirates | Hearing impairment; Nyctalopia | Male | Yes | Patient from 'family 4' in the publication |