|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0002398)
|
Degeneration of anterior horn cells |
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
|
12
|
(HPO:0006850)
|
Hypoplasia of the ventral pons |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
14
|
(HPO:0200147)
|
Neuronal loss in basal ganglia |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
EMG shows neurogenic changes |
|
|
|
|
5 / 7739
|
|
19
|
(OMIM)
|
Neuronal loss in the brainstem |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Gliosis in the brainstem |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Gliosis in the basal ganglia |
|
|
|
|
1 / 7739
|