Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_031889.2:c.588+1del | 1 | |||
| NM_031889.2:c.1943T>C | 1 | |||
| NM_031889.2:c.2288G>A | 1 | |||
| NM_031889.2:c.534+161_534+162insGAGA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 104500.1.1 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Female | Yes | No | |
| 104500.1.2 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Female | Yes | No | First cousin of 104500.1.3, 104500.1.4, 104500.1.5 & 104500.1.6 |
| 104500.1.3 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Male | Yes | No | |
| 104500.1.4 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Male | Yes | No | Father of 104500.1.1 |
| 104500.1.5 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Female | Yes | No | |
| 104500.1.6 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Male | Yes | No | |
| 104500.1.7 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Male | Yes | No | Father of 104500.1.2 |
| 104500.1.8 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Male | Yes | No | Father of 104500.1.2 |
| 104500.1.9 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Male | Yes | No | Father of 104500.1.5 & 104500.1.6 |