|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000561)
|
Absent eyelashes |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
7
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
8
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
10
|
(HPO:0002860)
|
Squamous cell carcinoma |
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0004552)
|
Scarring alopecia of scalp |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
13
|
(HPO:0011859)
|
Punctate keratitis |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Spiky hyperkeratosis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Variable involvement of palms and soles |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0200102)
|
Sparse or absent eyelashes |
|
|
|
|
64 / 7739
|
|
17
|
(MedDRA:10001764)
|
Alopecia scarring |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|