|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
3
|
(HPO:0000712)
|
Emotional lability |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0002200)
|
Pseudobulbar signs |
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
13
|
(HPO:0000183)
|
Difficulty in tongue movements |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0001152)
|
Saccadic smooth pursuit |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
16
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
18
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
|
|
|
|
15 / 7739
|
|
19
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0002193)
|
Pseudobulbar behavioral symptoms |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0002464)
|
Spastic dysarthria |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0002491)
|
Spasticity of facial muscles |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0002501)
|
Spasticity of pharyngeal muscles |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
25
|
(OMIM)
|
Spasticity of lower and upper limbs |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Cortical atrophy with loss of pyramidal neurons in the motor cortex |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Lateral corticospinal tracts show atrophy, pallor, and degeneration |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Absence of lower motor neuron involvement |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
No sensory abnormalities |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
31
|
(HPO:0003474)
|
Sensory impairment |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
33
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
34
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
35
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|