|
1
|
(HPO:0000343)
|
Long philtrum |
rare [HPO:skoehler]
|
|
|
|
262 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
rare [HPO:skoehler]
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
4
|
(HPO:0001036)
|
Parakeratosis |
|
|
|
|
12 / 7739
|
|
5
|
(HPO:0006094)
|
Finger joint hypermobility |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
6
|
(HPO:0008404)
|
Nail dystrophy |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0011496)
|
Corneal neovascularization |
|
|
|
|
7 / 7739
|
|
8
|
(OMIM)
|
Maxillary decalcification (in some patients) |
|
|
|
|
1 / 7739
|
|
9
|
(MedDRA:10023365)
|
Keratopathy |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Corneal dyskeratosis |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000956)
|
Acanthosis nigricans |
|
|
|
|
54 / 7739
|
|
12
|
(OMIM)
|
Dyskeratotic keratinization |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Bowman membrane absent |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Stromal inflammatory infiltrate |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Alveolitis leading to tooth loss (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Epithelial dyskeratosis of vocal cords (in some patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Pruritic hyperkeratotic scars (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Prominent thickening of nail beds (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Raspy voice (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|