|
1
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
3
|
(HPO:0000734)
|
Disinhibition |
|
|
|
|
13 / 7739
|
|
4
|
(HPO:0000741)
|
Apathy |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
8
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
9
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
10
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
11
|
(OMIM)
|
Bulbar symptoms |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Tongue hypotrophy |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows chronic and active denervation |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Upper and lower motor neuron disease |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
17
|
(OMIM)
|
Hyperrflexia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Extrapyramidal symptoms may occur |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
A subset of patients develop frontotemporal dementia |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|
|
22
|
(HPO:0007354)
|
Amyotrophic lateral sclerosis |
|
|
|
|
25 / 7739
|
|
23
|
(HPO:0030223)
|
Perseveration |
|
|
|
|
5 / 7739
|