|
1
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0003474)
|
Sensory impairment |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
6
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
|
7
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0001287)
|
Meningitis |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
12
|
(HPO:0000360)
|
Tinnitus |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
13
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
14
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
16
|
(OMIM)
|
Multiple filling defects on myelography |
|
|
|
|
1 / 7739
|
|
17
|
(MedDRA:10059604)
|
Radicular pain |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Patchy numbness |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Band-like fibrous thickening of spinal arachnoid |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
21
|
(HPO:0000763)
|
Sensory neuropathy |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
22
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|