Male
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001040167.2:c.564C>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
609813.1.1 | Lebanon | Arachnodactyly; Camptodactyly of finger; Abnormally ossified vertebrae; Relatively short spine | No | |||
609813.1.2 | Lebanon | Female | No | Healthy mother of the affected proband 609813.1.1. |