|
1
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
3
|
(HPO:0000962)
|
Hyperkeratosis |
rare [HPO:skoehler]
|
|
|
|
216 / 7739
|
|
4
|
(HPO:0001056)
|
Milia |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0007446)
|
Palmoplantar blistering |
|
|
|
|
2 / 7739
|
|
6
|
(OMIM)
|
Blistering, recurrent, of the palms and soles |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Atrophic scarring |
|
|
|
|
9 / 7739
|
|
8
|
(OMIM)
|
Hyperkeratosis, focal, on the palms and soles (in adulthood in some) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Cleavage within basal keratinocytes |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|