1
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
2
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
3
|
(HPO:0100837)
|
Atrophodermia vermiculata |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
4
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
5
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
6
|
(HPO:0100559)
|
Lower limb asymmetry |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
7
|
(HPO:0001063)
|
Acrocyanosis |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
8
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
9
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
10
|
(HPO:0000492)
|
Abnormality of the eyelid |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
11
|
(HPO:0000499)
|
Abnormality of the eyelashes |
|
|
|
|
35 / 7739
|
12
|
(HPO:0000534)
|
Abnormality of the eyebrow |
|
|
|
|
39 / 7739
|
13
|
(HPO:0002671)
|
Basal cell carcinoma |
|
|
|
|
18 / 7739
|
14
|
(HPO:0007380)
|
Facial telangiectasia |
|
|
|
|
3 / 7739
|
15
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
16
|
(HPO:0008069)
|
Neoplasm of the skin |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
17
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
18
|
(OMIM)
|
Trichoepithelioma (brown, flat-topped papules) (rare) |
|
|
|
|
2 / 7739
|
19
|
(OMIM)
|
Elastin loss and clumping in skin |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Absent/abnormal eyelashes and eyebrows |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Cyanotic redness of lips and hands |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Follicular skin atrophy of cheeks |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Whitish-yellow, milia-like facial papules |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Vermiculate atrophoderma |
|
|
|
|
1 / 7739
|
25
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
26
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|