Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005199.5:c.807dup | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
265000.3.2 | Lebanon | Decreased fetal movement; Arthrogryposis multiplex congenita; Pterygium; Short stature; Kyphosis; Scoliosis; Abnormal facial shape; High palate; Arachnodactyly; Cryptorchidism | Male | Yes | Yes | Brother of 265000.3.1 |