|
1
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
2
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0002561)
|
Absent nipple |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
6
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
7
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
11
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
13
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
14
|
(HPO:0007521)
|
Irregular hyperpigmentation of back |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0008587)
|
Mild neurosensory hearing impairment |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
18
|
(OMIM)
|
Normal sweating |
|
|
|
|
13 / 7739
|
|
19
|
(OMIM)
|
Focal linear dermal hypoplasia of nasal tip |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0100783)
|
Breast aplasia |
|
|
|
|
19 / 7739
|
|
22
|
(OMIM)
|
Athelia |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|