1
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
2
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
4
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
5
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
6
|
(HPO:0100555)
|
Asymmetric growth |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
7
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
8
|
(HPO:0001100)
|
Heterochromia iridis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
9
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
10
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
11
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
12
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
13
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
14
|
(HPO:0002229)
|
Alopecia areata |
|
|
|
|
5 / 7739
|
15
|
(HPO:0002277)
|
Horner syndrome |
|
|
|
|
7 / 7739
|
16
|
(HPO:0002290)
|
Poliosis |
|
|
|
|
3 / 7739
|
17
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
18
|
(HPO:0003011)
|
Abnormality of the musculature |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
19
|
(HPO:0003778)
|
Short mandibular rami |
|
|
|
|
7 / 7739
|
20
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
21
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
22
|
(HPO:0100661)
|
Trigeminal neuralgia |
|
|
|
|
3 / 7739
|
23
|
(OMIM)
|
Wasting of one side of face |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Misshapen, small ear |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Loss of periorbital fat |
|
|
|
|
1 / 7739
|
26
|
(MedDRA:10023683)
|
Lagophthalmos |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Lip atrophy (involved side) |
|
|
|
|
1 / 7739
|
28
|
(HPO:0012473)
|
Tongue atrophy |
|
|
|
|
8 / 7739
|
29
|
(OMIM)
|
Delayed teeth eruption on ipsilateral side |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Basilar kyphosis |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Circumscribed alopecia |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Facial muscle atrophy of involved side |
|
|
|
|
1 / 7739
|
33
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
34
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|
35
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|