|
1
|
(HPO:0000217)
|
Xerostomia |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000615)
|
Abnormality of the pupil |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0000651)
|
Diplopia |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0002014)
|
Diarrhea |
Frequent [Orphanet]
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
10
|
(HPO:0006824)
|
Cranial nerve paralysis |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
12
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
13
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|