Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
- Synonyms
- Epidermolysis bullosa, nonspecific, autosomal recessive
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (17 available)
Clinical features
Help- Abnormality of the integument
- Abnormal blistering of the skin
Abnormal blistering of the skin
- MedGen UID: 412159
- Concept ID: C2132198
- Finding: Finding
Abnormality of the integument
- Epidermal acanthosis
Epidermal acanthosis
- MedGen UID: 65136
- Concept ID: C0221270
- Finding: Finding
Abnormality of the integument
- Fragile skin
Fragile skin
- MedGen UID: 66826
- Concept ID: C0241181
- Finding: Finding
Abnormality of the integument
- Hyperkeratosis
Hyperkeratosis
- MedGen UID: 209030
- Concept ID: C0870082
- Finding: Disease or Syndrome
Abnormality of the integument
- Abnormal blistering of the skin
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