Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004407.3:c.1A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
241520.4.1 | Lebanon | Square face; High forehead; Proptosis; Short stature; Genu varum; Hyperostosis; Sclerosis of skull base; Increased bone mineral density | Female | Yes | Yes |