epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
MONDO:0030535Mondo
Findings
No curated finding names epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 1 reported patient
- 2 of 2 reported patients · Congenital onset
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Mitten deformityHPOHP:0004057
- 1 of 1 reported patient
- Oral mucosal blistersHPOHP:0200097
- 3 of 3 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 1 reported patient
- SepsisHPOHP:0100806
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KRT5HGNC:6442
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
- Also called
- EBS2D