1
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
2
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
3
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
4
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
5
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
6
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
7
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
8
|
(HPO:0002215)
|
Sparse axillary hair |
|
|
|
|
21 / 7739
|
9
|
(HPO:0002225)
|
Sparse pubic hair |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
10
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
11
|
(HPO:0001662)
|
Bradycardia |
|
|
|
|
41 / 7739
|
12
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
13
|
(HPO:0004763)
|
Paroxysmal supraventricular tachycardia |
|
|
|
|
10 / 7739
|
14
|
(HPO:0010764)
|
Short eyelashes |
|
|
|
|
3 / 7739
|
15
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
16
|
(OMIM)
|
Unattached distal half of nails |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
No skin defects |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Normal sweating |
|
|
|
|
13 / 7739
|
19
|
(OMIM)
|
Short, thin, sparse, pale scalp hair |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Short, sparse eyelashes |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
22
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
24
|
(HPO:0007529)
|
Hidrotic ectodermal dysplasia |
|
|
|
|
3 / 7739
|
25
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|