Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_052854.4:c.928_930AAG[2] | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616229.1.1 | Lebanon | Micromelia; Decreased skull ossification; Fractures of the long bones; Fetal onset | Unknown | Yes | Yes | |
616229.1.2 | Lebanon | Lethal skeletal dysplasia; Decreased skull ossification; Fractures of the long bones; Fetal onset | Unknown | Yes | Yes | Sibling of 616229.1.1 |
616229.1.3 | Lebanon | Lethal skeletal dysplasia | Unknown | Yes | Yes | Sibling of 616229.1.1 |
616229.1.5 | Lebanon | Osteopenia; Blue sclerae | Female | Yes | Yes | Sibling of 616229.1.1 |
616229.1.6 | Lebanon | Recurrent fractures; Blue sclerae | Female | Yes | Yes | Mother of 616229.1.1 |