|
1
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
3
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0001006)
|
Hypotrichosis |
rare [HPO:skoehler]
|
|
|
|
219 / 7739
|
|
5
|
(HPO:0004528)
|
Generalized hypotrichosis |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|
|
7
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
|
8
|
(HPO:0001596)
|
Alopecia |
rare [HPO:skoehler]
|
|
|
|
162 / 7739
|
|
9
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0002164)
|
Nail dysplasia |
rare [HPO:skoehler]
|
|
|
|
82 / 7739
|
|
11
|
(HPO:0007431)
|
Congenital ichthyosiform erythroderma |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0007549)
|
Desquamation of skin soon after birth |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0008404)
|
Nail dystrophy |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
14
|
(OMIM)
|
Taut facial skin |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0012472)
|
Eclabion |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
17
|
(OMIM)
|
Digital necrosis (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Collodion membrane at birth |
|
|
|
|
10 / 7739
|
|
19
|
(OMIM)
|
Self-healing collodion baby (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Large dark plate-like scales |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Fine white scales |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Bathing suit distribution of ichthyosis (in some patients) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hypohidrosis or anhidrosis (in some patients) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Palmoplantar hyperkeratosis, mild (in some patients) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Marked hyperkeratosis |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Parakeratosis, minimal to none |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Acanthosis, mild to moderate |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Lymphocytic infiltrate in upper dermis, mild |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Thickening of cornified cell envelope during keratinization |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Cholesterol clefts in thickened stratum corneum |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Broad stratum granulosum |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Lipid vacuoles in corneocytes |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|