1
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
2
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|
3
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
4
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
5
|
(HPO:0001131)
|
Corneal dystrophy |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
6
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
8
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
11
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
12
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
13
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
14
|
(HPO:0000230)
|
Gingivitis |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
15
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
16
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
17
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
18
|
(HPO:0001806)
|
Onycholysis |
|
|
|
|
20 / 7739
|
19
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
20
|
(OMIM)
|
Medullary narrowing of hand bones |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Burning and watering of eyes |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Erythematous scaly skin |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Distal onycholysis |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Soft teeth |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Early tooth decay |
|
|
|
|
1 / 7739
|
26
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
27
|
(HPO:0000504)
|
Abnormality of vision |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
28
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
29
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
31
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|