Male
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 |
226980.3.5 | Tunisia | Female | Mother of 226980.3.1 | |||
226980.3.6 | Tunisia | Female | Sister of 226980.3.1 |