Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004836.7:c.1570_1573del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226980.1.1 | Saudi Arabia | Death in infancy; Diabetic ketoacidosis; Spondyloepiphyseal dysplasia; Femur fracture; Proptosis; Wide anterior fontanel; High palate; | Male | No | Yes | The patient had a younger brother with Diabetes Mellitus but with normal skeletal development |
| 226980.1.2 | Saudi Arabia | Male | Father of 226980.1.1 | |||
| 226980.1.4 | Saudi Arabia | Female | Sister of 226980.1.1 |