|
1
|
(HPO:0010719)
|
Abnormality of hair texture |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0002558)
|
Supernumerary nipple |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
8
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
9
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0000995)
|
Melanocytic nevus |
|
|
|
|
63 / 7739
|
|
11
|
(HPO:0001965)
|
Abnormality of the scalp |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
13
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
14
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
15
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
16
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
17
|
(OMIM)
|
Nevus pigmentosus |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Severe hypotrichosis |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Frontoparietal bone deficiency |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Secondary anodontia |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|