|
1
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
3
|
(HPO:0008064)
|
Ichthyosis |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
5
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
6
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
7
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
8
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
9
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
10
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
11
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
13
|
(HPO:0007553)
|
Congenital symmetrical palmoplantar keratosis |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0100725)
|
Lichenification |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
15
|
(OMIM)
|
Erythema, perioral |
|
|
|
|
2 / 7739
|
|
16
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
17
|
(OMIM)
|
Transgressive keratosis |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Lichenoid plaques |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Fragile, lustreless nails |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
21
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|