Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004836.6:c.1293G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226980.4.1 | United Arab Emirates | Neonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Death in childhood | Male | Yes | Yes | |
| 226980.4.2 | United Arab Emirates | Neonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasia | Female | Yes | Yes | Sibling of 226980.4.1 |
| 226980.4.3 | United Arab Emirates | Neonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasia; Death in childhood | Male | Yes | Yes | First cousin of 226980.4.1 |
| 226980.4.5 | United Arab Emirates | Neonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasia; Death in childhood | Male | Yes | Yes | Second cousin of 226980.4.1 |
| 226980.4.6 | United Arab Emirates | Neonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasia; Death in infancy | Female | Yes | Yes | Second cousin of 226980.4.1 |