Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004530.6:c.538G>A | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
259600.1.1 | Saudi Arabia | Contractures of the joints of the upper limbs; Osteopenia; Scoliosis | Female | Yes | Yes |