1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
2
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
8
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
9
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
10
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
11
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
12
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
14
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
15
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
16
|
(HPO:0002371)
|
Loss of speech |
|
|
|
|
15 / 7739
|
17
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
18
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
19
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
20
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
21
|
(MedDRA:10021639)
|
Incontinence |
|
|
|
|
11 / 7739
|
22
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
23
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
24
|
(OMIM)
|
Developmental delay, progressive |
|
|
|
|
1 / 7739
|
25
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
26
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
27
|
(OMIM)
|
Normal or mildly decreased arylsulfatase A activity |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Saposin B deficiency |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Submucosal macrophages filled with sphingolipids |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Increased urinary sulfatides |
|
|
|
|
1 / 7739
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
32
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|