1
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
2
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
3
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
4
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
5
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
6
|
(HPO:0000712)
|
Emotional lability |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
7
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
8
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
9
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
10
|
(HPO:0003474)
|
Sensory impairment |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
11
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
13
|
(HPO:0000183)
|
Difficulty in tongue movements |
|
|
|
|
4 / 7739
|
14
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
15
|
(HPO:0001332)
|
Dystonia |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
16
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
17
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
18
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
19
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
|
|
|
|
15 / 7739
|
20
|
(HPO:0002193)
|
Pseudobulbar behavioral symptoms |
|
|
|
|
2 / 7739
|
21
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
22
|
(HPO:0002366)
|
Abnormal lower motor neuron morphology |
|
|
|
|
12 / 7739
|
23
|
(HPO:0002425)
|
Anarthria |
|
|
|
|
5 / 7739
|
24
|
(HPO:0002464)
|
Spastic dysarthria |
|
|
|
|
5 / 7739
|
25
|
(HPO:0002491)
|
Spasticity of facial muscles |
|
|
|
|
3 / 7739
|
26
|
(HPO:0002501)
|
Spasticity of pharyngeal muscles |
|
|
|
|
3 / 7739
|
27
|
(HPO:0003444)
|
EMG: chronic denervation signs |
|
|
|
|
5 / 7739
|
28
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
29
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
30
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
31
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
|
|
15 / 7739
|
32
|
(HPO:0007354)
|
Amyotrophic lateral sclerosis |
|
|
|
|
25 / 7739
|
33
|
(HPO:0009130)
|
Hand muscle atrophy |
|
|
|
|
11 / 7739
|