|
1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
5
|
(HPO:0000746)
|
Delusions |
|
|
|
|
21 / 7739
|
|
6
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
7
|
(HPO:0001082)
|
Cholecystitis |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
14
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
15
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
16
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
17
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
18
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
20
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
21
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
22
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
23
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
24
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
25
|
(HPO:0002371)
|
Loss of speech |
|
|
|
|
15 / 7739
|
|
26
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
28
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
29
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
30
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
31
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
32
|
(HPO:0005609)
|
Gallbladder dysfunction |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0007133)
|
Progressive peripheral neuropathy |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
35
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
36
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
37
|
(OMIM)
|
Progression to tetraplegia and decerebrate state |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
EMG shows neuropathic changes |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
40
|
(OMIM)
|
Disorganized thinking |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Decreased arylsulfatase A (ARSA) activity in urine, leukocytes, fibroblasts |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Increased urinary sulfatide excretion |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|