1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
2
|
(HPO:0002664)
|
Neoplasm |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
3
|
(HPO:0000989)
|
Pruritus |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
4
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
5
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
6
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
7
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
9
|
(HPO:0002861)
|
Melanoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
10
|
(HPO:0005600)
|
Congenital giant melanocytic nevus |
|
|
|
|
1 / 7739
|
11
|
(HPO:0012056)
|
Cutaneous melanoma |
|
|
|
|
10 / 7739
|
12
|
(OMIM)
|
Giant pigmented hairy nevus, often in lumbosacral distribution |
|
|
|
|
1 / 7739
|
13
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
14
|
(HPO:0030448)
|
Soft tissue sarcoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
15
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
16
|
(HPO:0001965)
|
Abnormality of the scalp |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
17
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
19
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
20
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
21
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
22
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
23
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
24
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
25
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
26
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
27
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
28
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
29
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
30
|
(HPO:0010759)
|
Prominence of the premaxilla |
|
|
|
|
5 / 7739
|
31
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|