1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
3
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
4
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
5
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
6
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
7
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
8
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
13
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
15
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
16
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
17
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
18
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
19
|
(HPO:0002398)
|
Degeneration of anterior horn cells |
|
|
|
|
14 / 7739
|
20
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
21
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
22
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
23
|
(HPO:0006850)
|
Hypoplasia of the ventral pons |
|
|
|
|
3 / 7739
|
24
|
(HPO:0006999)
|
Basal ganglia gliosis |
|
|
|
|
4 / 7739
|
25
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
26
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
27
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|
28
|
(HPO:0200147)
|
Neuronal loss in basal ganglia |
|
|
|
|
3 / 7739
|