Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_014249.4:c.119-2A>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
268100.2.1 | Palestine | Retinal dystrophy | Male | Yes | Yes | The patient had two affected sisters who were not tested for mutations. |