1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
3
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
4
|
(HPO:0100679)
|
Lack of skin elasticity |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
5
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
6
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
7
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
8
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
9
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
10
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
11
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
12
|
(HPO:0001041)
|
Facial erythema |
|
|
|
|
8 / 7739
|
13
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
14
|
(HPO:0007418)
|
Alopecia totalis |
|
|
|
|
6 / 7739
|
15
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
16
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
17
|
(HPO:0009775)
|
Amniotic constriction ring |
|
|
|
|
21 / 7739
|
18
|
(HPO:0011838)
|
Sclerodactyly |
|
|
|
|
8 / 7739
|
19
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
20
|
(OMIM)
|
Ulerythema ophryogenes |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Contractures of the digits due to skin tightening |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Pseudoainhum formation |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Tapering of the fingers |
|
|
|
|
1 / 7739
|
24
|
(MedDRA:10066295)
|
Keratosis pilaris |
|
|
|
|
11 / 7739
|
25
|
(OMIM)
|
Spiny follicular plugging |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Alopecia, congenital, total |
|
|
|
|
2 / 7739
|
27
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|