|
1
|
(HPO:0000221)
|
Furrowed tongue |
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000495)
|
Recurrent corneal erosions |
|
|
|
|
20 / 7739
|
|
4
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
5
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
6
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
7
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
8
|
(HPO:0005595)
|
Generalized hyperkeratosis |
|
|
|
|
14 / 7739
|
|
9
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
|
|
|
|
25 / 7739
|
|
11
|
(HPO:0001128)
|
Trichiasis |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
13
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0002860)
|
Squamous cell carcinoma |
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
16
|
(HPO:0005406)
|
Recurrent bacterial skin infections |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
18
|
(OMIM)
|
Superficial and deep corneal stromal vascularization with scarring |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Limbal stem cell insufficiency |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Scant eyebrows |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Thickened and keratinized eyelids |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Tight heel cords |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Congenital erythrokeratodermia |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Mild lamellar ichthyosis |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0007468)
|
Perifollicular hyperkeratosis |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0008399)
|
Circumungual hyperkeratosis |
|
|
|
|
4 / 7739
|
|
27
|
(OMIM)
|
Nail dystrophy, variable |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Scant scalp hair |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Recurrent cutaneous mycoses |
|
|
|
|
1 / 7739
|