Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005199.5:c.1249G>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
265000.4.2 | Lebanon | Arthrogryposis multiplex congenita; Pterygium; Short stature; Abnormal facial shape; High palate; Arachnodactyly | Female | Yes | Yes | Sister of 265000.4.1 |