|
1
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
2
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
|
3
|
(OMIM)
|
Skin blistering, intermittent |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Residual slightly atrophic scarring |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Residual postinflammatory hyperpigmentation, moderate |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Diffuse pigmentary skin mottling, mild, on trunk and proximal limbs |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Acanthosis, mild |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Hyperkeratosis, mild |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Irregular ruffled or jagged appearance at dermal-epidermal junction |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Basement membrane keratinocyte disruption within lower epidermis |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Aggregated intermediate filaments |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Increased number of perinuclear vesicles |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Vesicles clustered near plasma membrane |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|