1
|
(HPO:0010719)
|
Abnormality of hair texture |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
3
|
(HPO:0001025)
|
Urticaria |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
4
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
5
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
6
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
7
|
(HPO:0000956)
|
Acanthosis nigricans |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
8
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
3/10 [HPO]
|
|
19559398
|
IBIS
|
158 / 7739
|
9
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
10
|
(HPO:0000498)
|
Blepharitis |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
11
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
12
|
(HPO:0002209)
|
Sparse scalp hair |
6/10 [HPO]
|
|
19559398
|
IBIS
|
59 / 7739
|
13
|
(HPO:0000535)
|
Sparse and thin eyebrow |
7/10 [HPO]
|
|
19559398
|
IBIS
|
76 / 7739
|
14
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
15
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
16
|
(HPO:0000975)
|
Hyperhidrosis |
2/10 [HPO]
|
|
19559398
|
IBIS
|
64 / 7739
|
17
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
18
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
19
|
(HPO:0002231)
|
Sparse body hair |
5/8 [HPO]
|
|
19559398
|
IBIS
|
9 / 7739
|
20
|
(HPO:0000958)
|
Dry skin |
6/10 [HPO]
|
|
19559398
|
IBIS
|
152 / 7739
|
21
|
(HPO:0000966)
|
Hypohidrosis |
3/10 [HPO]
|
|
19559398
|
IBIS
|
41 / 7739
|
22
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
23
|
(HPO:0001810)
|
Dystrophic toenail |
7/11 [HPO]
|
|
19559398
|
IBIS
|
9 / 7739
|
24
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
25
|
(HPO:0006349)
|
Agenesis of permanent teeth |
10/10 [HPO]
|
|
19559398
|
IBIS
|
13 / 7739
|
26
|
(HPO:0006481)
|
Abnormality of primary teeth |
5/11 [HPO]
|
|
19559398
|
IBIS
|
2 / 7739
|
27
|
(HPO:0007410)
|
Palmoplantar hyperhidrosis |
|
|
|
|
6 / 7739
|
28
|
(HPO:0007556)
|
Plantar hyperkeratosis |
3/10 [HPO]
|
|
19559398
|
IBIS
|
8 / 7739
|
29
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
30
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
31
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
32
|
(HPO:0010298)
|
Smooth tongue |
|
|
|
|
2 / 7739
|
33
|
(HPO:0011359)
|
Dry hair |
|
|
|
|
16 / 7739
|
34
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
35
|
(OMIM)
|
Reduced fungiform papillae |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Reduced filiform papillae |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Severe hypodontia |
|
|
|
|
1 / 7739
|
38
|
(MedDRA:10033551)
|
Palmar erythema |
|
|
|
|
2 / 7739
|
39
|
(MedDRA:10066295)
|
Keratosis pilaris |
|
|
|
|
11 / 7739
|
40
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
41
|
(HPO:0005595)
|
Generalized hyperkeratosis |
|
|
|
|
14 / 7739
|
42
|
(OMIM)
|
Orthokeratosis in epidermis |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Hyperkeratosis in epidermis |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Hypergranulosis in epidermis |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Acanthosis, mild, in epidermis |
|
|
|
|
1 / 7739
|
46
|
(HPO:0008391)
|
Dystrophic fingernails |
|
|
|
|
6 / 7739
|
47
|
(OMIM)
|
Congenital absence of nails (anonychia) |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Hair is absent at birth |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Longitudinal depressions on microscopic examination |
|
|
|
|
1 / 7739
|
50
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
51
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
52
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
53
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|