Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002615.7:c.696C>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613982.1.2 | United Arab Emirates | Fractures of the long bones; Vertebral compression fracture; Reduced bone mineral density; Blue sclerae; Short stature; Inability to walk | Male | Yes | Yes | Brother of 613982.1.1 |