Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000478.6:c.1064T>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 241500.3.1 | Egypt | Delayed closure of the anterior fontanelle; Short stature; Developmental regression; Abnormality of bone mineral density; Low alkaline phosphatase; Delayed dental eruption; Multiple fractures; Osteopenia | Female | Yes | Yes | Patient 'HPP109' in the publication. |
| 241500.3.2 | Egypt | Male | Father of 241500.3.1 |