Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004836.7:c.1035dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226980.3.1 | Tunisia | Neonatal insulin-dependent diabetes mellitus; Epiphyseal dysplasia | Male | Yes | Yes | |
| 226980.3.2 | Tunisia | Neonatal insulin-dependent diabetes mellitus; Epiphyseal dysplasia | Female | Yes | Yes | Sister of 226980.3.1 |
| 226980.3.3 | Tunisia | Neonatal insulin-dependent diabetes mellitus; Epiphyseal dysplasia | Male | Yes | Yes | Brother of 226980.3.1 |
| 226980.3.4 | Tunisia | Male | Father of 226980.3.1 | |||
| 226980.3.6 | Tunisia | Female | Sister of 226980.3.1 |