|
1
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
3
|
(HPO:0004528)
|
Generalized hypotrichosis |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0006323)
|
Premature loss of primary teeth |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
9
|
(HPO:0000320)
|
Bird-like facies |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
11
|
(HPO:0001806)
|
Onycholysis |
|
|
|
|
20 / 7739
|
|
12
|
(HPO:0001807)
|
Ridged nail |
|
|
|
|
20 / 7739
|
|
13
|
(HPO:0001816)
|
Thin nail |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0002671)
|
Basal cell carcinoma |
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0002860)
|
Squamous cell carcinoma |
|
|
|
|
18 / 7739
|
|
16
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
17
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
18
|
(HPO:0011313)
|
Narrow nail |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
20
|
(OMIM)
|
Eyelid margin cysts (apocrine hidrocystoma) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Eccrine poroma |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thin, narrow nails |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
24
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
27
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|