Late-onset localized junctional epidermolysis bullosa - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 231556
OMIM Id: 226440
ICD-10: Q81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Junctional epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000322) Short philtrum 130 / 7739
2
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
3
 (HPO:0000303) Mandibular prognathia 179 / 7739
4
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0000164) Abnormality of the teeth 291 / 7739
7
 (HPO:0001132) Lens subluxation 13 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0001810) Dystrophic toenail 9 / 7739
10
 (OMIM) Epidermolysis bullosa localized to anterior legs 1 / 7739
11
 (HPO:0003584) Late onset 10 / 7739
12
 (OMIM) Enamel defect 3 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Short midface 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: