EBD, Bart Type is a genetic disorder characterized by any one or a combination of the following three characteristics: congenital absence of skin, blistering and associated nail abnormalities.
Diseases of the skin and subcutaneous tissue
Bullous disorders
Autosomal dominant
3p21.31
EBD, Bart Type is a genetic disorder characterized by any one or a combination of the following three characteristics: congenital absence of skin, blistering and associated nail abnormalities.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 132000.1 | Lebanon | Female | Yes | No | Abnormal fingernail morphology; Region... Abnormal fingernail morphology; Regional abnormality of skin  | NM_000094.3:c.6082G>A | Heterozygous | Autosomal, Dominant | Nair et al. 2018 | Father also affected |