Unknown
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000350.3:c.1630_1633dup | 4+ |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
604116.G.2 | Saudi Arabia | Cone/cone-rod dystrophy | Unknown | Yes | Family with unknown number of affected members |