Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003118.4:c.57+1G>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616507.1.1 | Sudan | Scoliosis; Short stature; Abnormal facial shape; Pectus excavatum; Joint hypermobility; Osteoporosis; Blue sclerae | Male | Yes | Yes |