Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_031889.2:c.588+1del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
104500.1 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Yes | No | Benign variants seen in family, but not segregating with disease | |
104500.1.1 | Lebanon | Enamel hypoplasia; Generalized hypoplasia of dental enamel | Female | Yes | No | |
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 |