Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001793.6:c.307C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
225280.2.2 | Saudi Arabia | Rod-cone dystrophy; Abnormal facial shape; Ectrodactyly | Male | Yes | Yes | Relative of 225280.2.1 |