Epidermolysis Bullosa Letalis
| Disorder | |
|---|---|
| OMIM #: | #226700 (Click to access OMIM database) |
| Disorder: | Epidermolysis Bullosa Letalis |
| Also known as: | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE, HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPILIGRIN, INCLUDED |
| Clinical | |
| Phenotype: | Die in infancy, generalized blistering at birth, periorificial erosions, difficulty feeding, nail dysplasia, hoarse cry, cough, respiratory distress, sepsis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-03 |
| References |
|---|
| Cross HE, Wells RS, and Esterly JR. (1968) Inheritance in epidermolysis bullosa letalis. J Med Genet 5(3): 189-196. PubMed ID: 5751205 |
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