Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | 8 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615066.G.1 | Saudi Arabia | Recurrent fractures; Delayed speech and language development | Female | Yes | Yes | Four related patients |
| 615066.G.3 | Saudi Arabia | Recurrent fractures; Osteoporosis; Abnormality of limb bone morphology; Pseudoarthrosis; Wormian bones; Short stature | Yes | Yes | 10 patients from three families. |