|
1
|
(HPO:0000221)
|
Furrowed tongue |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0100825)
|
Cheilitis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
|
4
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
5
|
(HPO:0006824)
|
Cranial nerve paralysis |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
6
|
(HPO:0010628)
|
Facial palsy |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
7
|
(HPO:0000298)
|
Mask-like facies |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0002716)
|
Lymphadenopathy |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
|
10
|
(HPO:0011123)
|
Inflammatory abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000282)
|
Facial edema |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
14
|
(OMIM)
|
Insidious, painless, nonpitting eyelid edema |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Periorbital heterogeneous thickening on CT scan |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Granulomatous lymphangitis on eyelid biopsy |
|
|
|
|
1 / 7739
|
|
17
|
(MedDRA:10024570)
|
Lip swelling |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Recurrent peripheral facial palsy |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000969)
|
Edema |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
21
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|