Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005853.6:c.503G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
611174.1.2 | Lebanon | Abnormal facial shape; Recurrent fractures; Intellectual disability, severe; Telecanthus; Dentinogenesis imperfecta | Male | Yes | Yes | First cousin once removed of 611174.1.1 Father had mild telecanthus |