|
1
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
9
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
10
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
13
|
(HPO:0002816)
|
Genu recurvatum |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
14
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
15
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
16
|
(HPO:0100576)
|
Amaurosis fugax |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
18
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
19
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
20
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
21
|
(HPO:0003011)
|
Abnormality of the musculature |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
22
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
23
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
24
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0000012)
|
Urinary urgency |
|
|
|
|
35 / 7739
|
|
27
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
28
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
|
|
|
|
22 / 7739
|
|
29
|
(HPO:0002615)
|
Hypotension |
|
|
|
|
52 / 7739
|
|
30
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
31
|
(HPO:0006926)
|
Metachromatic leukodystrophy variant |
|
|
|
|
1 / 7739
|