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GTR Home > Conditions/Phenotypes > Lethal acantholytic epidermolysis bullosa

Lethal acantholytic epidermolysis bullosa

Summary

Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010). [from OMIM]

Available tests

57 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (57 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DCWHKTA, DP, DSP
    Summary: desmoplakin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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