|
1
|
(HPO:0000656)
|
Ectropion |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0000966)
|
Hypohidrosis |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
3
|
(HPO:0007500)
|
Decreased number of sweat glands |
|
|
|
|
6 / 7739
|
|
4
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0001019)
|
Erythroderma |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
6
|
(HPO:0001036)
|
Parakeratosis |
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
8
|
(OMIM)
|
Collodion membrane at birth |
|
|
|
|
10 / 7739
|
|
9
|
(OMIM)
|
Icthyosis, generalized |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Fine whitish scaling on face and trunk |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Larger brownish scaling on neck, buttocks, and legs |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Reticulate ichthyosis (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
14
|
(OMIM)
|
Orthohyperkeratosis |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Thickening of stratum corneum |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Acanthosis, moderate |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Granular layer reduced (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Perivascular lymphocytic infiltrate, dermal, mild |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Lamellae in stratum corneum with few or minimal lipid droplets |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Regularly elongated perinuclear membranes in stratum corneum and granulosum |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Vesicular complexes in stratum corneum |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Electron-lucent vacuoles, some containing 1 or more smaller vesicles |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
24
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
|
|
40 / 7739
|
|
25
|
(HPO:0100760)
|
Clubbing of toes |
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|