|
1
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
5
|
(HPO:0004326)
|
Cachexia |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
6
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
8
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
14
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
15
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
30% [HPO:skoehler]
|
|
|
|
36 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0001284)
|
Areflexia |
30% [HPO:skoehler]
|
|
|
|
198 / 7739
|
|
21
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
22
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
23
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
24
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
25
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
27
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
28
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
29
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
30
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
31
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
32
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
33
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
34
|
(HPO:0003444)
|
EMG: chronic denervation signs |
|
|
|
|
5 / 7739
|
|
35
|
(HPO:0003593)
|
Infantile onset |
Typical [HPO]
|
|
|
|
249 / 7739
|
|
36
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
37
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|