|
1
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
2
|
(HPO:0000982)
|
Palmoplantar keratoderma |
Occasional [HPO:probinson]
|
|
|
|
40 / 7739
|
|
3
|
(HPO:0007447)
|
Diffuse palmoplantar hyperkeratosis |
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0001019)
|
Erythroderma |
Occasional [HPO:probinson]
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0001036)
|
Parakeratosis |
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0001927)
|
Acanthocytosis |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
8
|
(OMIM)
|
Dilation of dermal capillaries |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Collodion membrane at birth |
|
|
|
|
10 / 7739
|
|
10
|
(OMIM)
|
Fine white or greyish-white scales |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Hyperlinearity of palms (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Scales on scalp (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
14
|
(OMIM)
|
Orthokeratosis |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Thickening of stratum corneum, mild |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Acanthosis, moderate |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Parakeratosis, moderate |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Granular layer normal or slightly prominent |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Perivascular lymphocytic infiltrate, dermal, mild |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0040162)
|
Orthokeratosis |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|